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Genetics Flash Facts

Q0001:What does it mean for genetic code to be commaless?

Genetics Flash Facts

Read from a fixed starting point as a continuous sequence of bases

Genetics Flash Facts

Q0002:What does it mean for genetic code to be nonoverlapping?

Genetics Flash Facts

Read from a fixed starting point

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Q0003:What does it mean for genetic code to be universal?

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Genetic code is conserved throughout evolution

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Q0004:What are the properties of the genetic code?

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1. Unambiguous;2. Degenerate/redundant;3. Commaless/nonoverlapping;4. Universal

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Q0005:When is genetic code not commaless/nonoverlapping?

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In some viruses

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Q0006:What are exceptions to universality of genetic code?

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1. Mitochondria;2. Archaebacteria;3. Mycoplasma;4. Some yeasts

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Q0007:Name that mutation: Same amino acid; often with a base change in 3rd position of codon

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Silent mutation

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Q0008:What kind of mutation is called: silent

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Same amino acid; often with a base change in 3rd position of codon

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Q0009:What mutation is masked by tRNA wobble?

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Silent mutations

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Q0010:Name that mutation: Changed amino acid whose structure is dissimilar to proper amino acid

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Missense mutation (not conservative)

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Q0011:Name that mutation: Changed amino acid whose structure is similar to proper amino acid

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Conservative missense mutation

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Q0012:What kind of mutation is called: missense

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Amino acid is changed. If the structure of the new amino acid is similar to the original; it is called conservative.

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Q0013:Name that mutation: Change resulting in early stop codon

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Nonsense mutation;(Mnemonic: Stop the nonsense!)

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Q0014:What kind of mutation is called: nonsense

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Change resulting in early stop codon;(Mnemonic: Stop the nonsense!)

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Q0015:Name that mutation: change resulting in misreading of all nucleotides downstream; usually resulting in a truncated protein

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Frame shift mutation

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Q0016:What kind of mutation is called: frameshift

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change resulting in misreading of all nucleotides downstream; usually resulting in a truncated protein

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Q0017:Mutations ordered by decreasing severity of damage

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1. Nonsense;2. Missense;3. Silent

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Q0018:Eukaryotic genome: single/multiple origins of replication

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multiple

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Q0019:Prokaryotic genome: single/multiple origins of replication

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single

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Q0020:Eukaryotic genome: Trigger for replication

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Consensus sequence of AT-rich base pairs

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Q0021:Prokaryotic genome: Describe DNA replication

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Continuous bidirectional DNA synthesis on leading strand and discontinuous (Okazaki fragments) on lagging strand

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Q0022:Enzyme function: DNA topoisomerases

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Create a nick in the helix to relieve supercoils

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Q0023:DNA Topoisomerase I: Mechanism

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cuts one strand; passes the other through it then reanneals the cut strand

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Q0024:DNA Topoisomerase II: Mechanism

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cuts both strands; and passes an unbroken double strand through it then reanneals the cut strand

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Q0025:Enzyme function: Primase

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Makes an RNA primer on which DNA polymerase III can initiate replication

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Q0026:DNA polymerase III: Mechanism

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1. Adds deoxynucleotides to the 3' end until it reaches primer of preceding fragment;2. 3' to 5' exonuclease activity "proofreads" each added nucleotide

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Q0027:DNA polymerase III: Which direction does it read?

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3' to 5'

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Q0028:DNA polymerase III: Which direction does it write?

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5' to 3'

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Q0029:DNA polymerase III: Which direction does it proofread?

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3' to 5'

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Q0030:Enzyme function: DNA polymerase III

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Elongates the chain

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Q0031:Enzyme function: DNA polymerase I

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Degrades RNA primer and fills in the gap with DNA

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Q0032:DNA polymerase I: Which direction does it read?

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3' to 5'

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Q0033:DNA polymerase I: Which direction does it write?

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5' to 3'

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Q0034:DNA polymerase I: Which direction does it proofread?

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5' to 3'

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Q0035:Enzyme function: DNA helicase

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Separates the two strands of DNA into single strands allowing for replication to occur. The position of these separated strands is called the replication fork.

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Q0036:Types of DNA repair

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Single stranded;1. Nucleotide excision repair;2. Base excision repair;3. Mismatch repair;Double stranded;1. Nonhomologous end joining

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Q0037:Nucleotide excision repair: Mechanism

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1. Specific endonucleases release the oligonucleotide containing damaged bases;2. DNA polymerase and ligase fill and reseal the gap; respectively

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Q0038:In what condition is nucleotide excision repair mutated?

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Xeroderma pigmentosa (dry skin with melanoma and other cancers)

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Q0039:Base excision repair: Mechanism

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1. Specific glycosylases recognize and remove damaged bases;2. AP endonuclease cuts DNA at apyrimidinic site;3. Empty sugar is removed;4. Gap is refilled and resealed

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Q0040:Mismatch repair: Mechanism

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1. Unmethylated; newly synthesized string is recognized;2. Mismatched nucleotides are removed;3. Gap is refilled and resealed

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Q0041:In what condition is mismatch excision repair mutated?

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Hereditary Nonpolyposis Colon Cancer

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Q0042:Nonhomologous end joining: Mechanism

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Brings together two ends of DNA fragments (no requirement for homology)

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Q0043:What is on the 5' end of a nucleotide

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Triphosphate

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Q0044:What is on the 3' end of a nucleotide

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Hydroxyl group

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Q0045:True/False: DNA is synthesized 5' to 3'

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True

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Q0046:True/False: DNA is synthesized 3' to 5'

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False

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Q0047:True/False: RNA is synthesized 5' to 3'

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True

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Q0048:True/False: RNA is synthesized 3' to 5'

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False

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Q0049:True/False: Protein synthesis proceeds 5' to 3'

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True

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Q0050:True/False: Protein synthesis proceeds 3' to 5'

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False

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Q0051:Types of RNA and their important qualities

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Massive; Rampant; Tiny;mRNA is the largest type;rRNA is the most abundant type;tRNA is the smallest type

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Q0052:What does eukaryotic RNA polymerase I make?

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rRNA

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Q0053:What does eukaryotic RNA polymerase II make?

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mRNA

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Q0054:What does eukaryotic RNA polymerase III make?

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tRNA

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Q0055:Which RNA polymerase makes rRNA?

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eukaryotic RNA polymerase I and prokaryotic RNA polymerase

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Q0056:Which RNA polymerase makes mRNA?

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eukaryotic RNA polymerase II and prokaryotic RNA polymerase

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Q0057:Which RNA polymerase makes tRNA?

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eukaryotic RNA polymerase III and prokaryotic RNA polymerase

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Q0058:True/False: RNA polymerase proofreads.

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False

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Q0059:True/False: RNA polymerase does not proofread.

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True

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Q0060:Special points about RNA polymerase II

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1. Opens DNA at promoter site;2. Inhibited by alphaamanitin

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Q0061:What does alpha-amanitin do?

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Inhibits RNA polymerase II leading to hepatic necrosis

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Q0062:mRNA initiation codons

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1. AUG (inAUGurates protein synthesis);2. GUG (rarely)

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Q0063:What does the mRNA initiation codon code for?

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Methionine in eukaryotes. formyl-methionine in prokaryotes.

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Q0064:mRNA stop codons

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1. UGA (U Go Away);2. UAA (U Are Away);3. UAG (U Are Gone)

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Q0065:Define promoter of gene expression.

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Site where RNA polymerase and multiple other transcription factors bind to DNA upstream from gene locus

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Q0066:What characterizes a promoter of gene expression?

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AT-rich upstream sequence with TATA and CAAT boxes

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Q0067:What is the result of promoter mutation?

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Dramatic decrease in amount of gene transcribed

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Q0068:Define enhancer of gene expression.

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Stretch of DNA that alters gene expression by binding transcription factors. May be located close to; far from; or even within the gene whose expression it regulates.

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Q0069:Define operator of gene expression

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Site where repressors bind

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Q0070:What is alternative splicing?

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Rearrangement of exons to make unique proteins

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Q0071:What is the sequence of mRNA splicing?

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1. Primary transcript combines with snRNP ("snerp") to form spliceosome;2. Lariat-shaped intermediate is generated;3. Lariat is released to remove intron precisely and join two exons

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Q0072:Where and when does eukaryotic RNA processing happen?

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In the nucleus after transcription

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Q0073:What is the initial RNA transcript called?

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heterogeneous nuclear RNA (hnRNA)

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Q0074:What are the steps in processing hnRNA to make mRNA? (Note: This is more than splicing.)

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1. Capping on 5' end with 7-methyl-G;2. Polyadenylation on 3' end (approximately 200 As);3. Splicing out of introns

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Q0075:How many nucleotides does tRNA contain?

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75 to 90 nucleotides

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Q0076:What sequence does every tRNA share at the 3' end?

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CCA along with a high percentage of chemically modified bases

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Q0077:Amino acid binding to tRNA: Where (on the tRNA) and how?

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Where: 3' end;How: Covalently

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Q0078:What is the enzyme involved in processing tRNA

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Aminoacyl tRNA synthetase (uses 1 ATP)

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Q0079:Aminoacyl tRNA synthetase: Mechanism

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1. Scrutinizes amino acid before it binds to tRNA;2. Binds AMP-amino group to 3' end of tRNA;3. Scrutinizes amino acid again. If incorrect; bond is hydrolyzed.

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Q0080:What is wrong with a mischarged tRNA

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Reads the regular bond but inserts wrong amino acid.

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Q0081:Which position on the codon is the wobble position?

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3rd position

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Q0082:Names of the steps in protein synthesis

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1. Initiation;2. Elongation;3. Termination

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Q0083:Sequence of events in the initiation step of protein synthesis.

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1. Initiation factors assemble the 40S ribosomal subunit with the initiator tRNA;2. mRNA and (60S?) ribosomal subunit combine with the 40S subunit;3. Initiation factors are released.

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Q0084:Sequence of events in the elongation step of protein synthesis.

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1. Aminoacyl tRNA binds to the A site;2. Peptidyltransferase catalyzes peptide bond formation;3. Peptidyltransferase transfers growing polypeptide to amino acid in A site;4. Ribosome advances three nucleotides toward 3' end of RNA moving peptidyl RNA to P site.

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Q0085:Sequence of events in the termination step of protein synthesis.

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1. Completed protein is released from ribosome;2. Ribosome dissociates.

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Q0086:Role of ATP in protein synthesis

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ATP does tRNA Activation (charging)

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Q0087:Role of GTP in protein synthesis

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GTP does tRNA Going places (aka translocation) and Gripping

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Q0088:Role of A site in protein synthesis

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A site holds incoming Aminoacyl tRNA.

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Q0089:Role of P site in protein synthesis

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P site accomodates growing Peptide.

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Q0090:Role of E site in protein synthesis

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E site holds Empty tRNA as it Exits

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Q0091:Which post-translational modification involves removal of N or C terminal pro-peptides from zymogens to generate mature proteins?

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Trimming

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Q0092:What happens in post-translational trimming?

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removal of N or C terminal pro-peptides from zymogens to generate mature proteins

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Q0093:Which post-translational modification involves phosphorylation?

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post-translational covalent alteration

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Q0094:What happens during post-translational covalent alterations?

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Either;1. Phosphorylation;2. Glycosylation;3. Hydroxylation

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Q0095:Which post-translational modification involves glycosylation?

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post-translational covalent alteration

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Q0096:Which post-translational modification involves hydroxylation?

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post-translational covalent alteration

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Q0097:What happens during proteasomal degradation?

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Attachment of ubiquitin to defective proteins to tag them for breakdown.

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Q0098:Ubiquitin or Ubiquinone: Proteosomal degradation

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Ubiquitin

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Q0099:Ubiquitin or Ubiquinone: Coenzyme Q in oxidative phosphorylation

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Ubiquinone

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Q0100:Where in the cell does the following occur: Fatty acid oxidation (beta-oxidation)

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Mitochondria

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Q0101:Where in the cell does the following occur: acetyl-CoA production

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Mitochondria

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Q0102:Where in the cell does the following occur: Krebs cycle

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Mitochondria

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Q0103:Where in the cell does the following occur: Glycolysis

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Cytoplasm

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Q0104:Where in the cell does the following occur: Fatty acid synthesis

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Cytoplasm

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Q0105:Where in the cell does the following occur: Hexose Monophosphate Shunt

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Cytoplasm

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Q0106:Where in the cell does the following occur: Protein Synthesis

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Rough endoplasmic reticulum in the cytoplasm

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Q0107:Where in the cell does the following occur: Steroid synthesis

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Smooth endoplasmic reticulum in the cytoplasm

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Q0108:Where in the cell does the following occur: Gluconeogenesis

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Pathway has steps in the mitochondria and in the cytoplasm

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Q0109:Where in the cell does the following occur: Urea cycle

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Pathway has steps in the mitochondria and in the cytoplasm

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Q0110:Where in the cell does the following occur: Heme synthesis

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Pathway has steps in the mitochondria and in the cytoplasm

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Q0111:What type of bonds hold the phosphoryls together in ATP; and how much energy are the bonds worth?

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Phosphoanhydride bonds are worth 7 kilocalories per mole (but only between the alpha and beta and the beta and the gamma; thus AMP's phosphoryl is not cleaved off for energy)

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Q0112:How many ATP molecules are produced by aerobic metabolism of glucose?

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38 via the Malate shuttle; and 36 via the G3P shuttle.

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Q0113:In aerobic metabolism of glucose; which pathway produces 38 ATP?

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Malate shuttle

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Q0114:In aerobic metabolism of glucose; which pathway produces 36 ATP?

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G3P shuttle

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Q0115:How much ATP is produced by anaerobic glycolysis?

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2 ATP per glucose

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Q0116:What is this molecule an activated carrier of?: ATP

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Phosphoryls

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Q0117:What is this molecule an activated carrier of?: NADH

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Electrons

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Q0118:What is this molecule an activated carrier of?: NADPH

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Electrons

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Q0119:What is this molecule an activated carrier of?: FADH2

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Electrons

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Q0120:What is this molecule an activated carrier of?: Coenzyme A

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Acyl

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Q0121:What is this molecule an activated carrier of?: Lipoamide

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Acyl

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Q0122:What is this molecule an activated carrier of?: Biotin

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CO2

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Q0123:What is this molecule an activated carrier of?: Tetrahydrofolate

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1-carbon units

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Q0124:What is this molecule an activated carrier of?: Sadenosyl-methionine

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Methyl groups

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Q0125:What is this molecule an activated carrier of?: Thiamine Pyrophosphate

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Aldehydes

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Q0126:What activated carriers carry: Phosphoryl

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ATP and GTP

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Q0127:What activated carriers carry: Electrons

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1. NADH;2. NADPH;3. FADH2

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Q0128:What activated carriers carry: Acyl

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1. Coenzyme A;2. Lipoamide

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Q0129:What activated carriers carry: CO2

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Biotin

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Q0130:What activated carriers carry: 1-carbon units

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1. Tetrahydrofolates (originally as formyl then methyl);2. Biotin (as CO2);3. S-adenosyl-methionine (as CH3)

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Q0131:What activated carriers carry: CH3 groups

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1. S-adenosyl-methionine;2. N5-methyl-THF

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Q0132:What activated carriers carry: Formyl groups

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N10-formyl-THF

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Q0133:What activated carriers carry: Aldehydes

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Thiamine Pyrophosphate

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Q0134:ATP and methionine react to form what?

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S-adenosyl-methionine

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Q0135:What reacts to yield S-adenosyl-methionine?

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ATP and methionine

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Q0136:What vitamin is necessary for regeneration of Sadenosyl-methionine?

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Vitamin B12

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Q0137:When is NAD used?

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Catabolic processes to carry reducing equivalents away as NADH

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Q0138:When is NADPH used?

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1. Anabolic process (steroid and fatty acid synthesis);2. Respiratory burst;3. P-450

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Q0139:Where does NADPH come from?

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HMP shunt

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Q0140:What disease results from NADPH oxidase deficiency?

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Chronic Granulomatous Disease

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Q0141:This enzyme phosphorylates glucose with high affinity.

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Hexokinase (as opposed to glucokinase)

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Q0142:This enzyme phosphorylates glucose with low affinity.

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Glucokinase (as opposed to hexokinase)

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Q0143:This enzyme phosphorylates glucose with a low capacity.

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Hexokinase (as opposed to glucokinase)

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Q0144:This enzyme phosphorylates glucose and is feedback inhibited by Glucose-6-Phosphate.

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Hexokinase (as opposed to glucokinase)

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Q0145:This enzyme phosphorylates glucose with a high capacity.

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Glucokinase (as opposed to hexokinase)

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Q0146:This enzyme phosphorylates glucose and is not feedback inhibited.

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Glucokinase (as opposed to hexokinase)

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Q0147:Glucokinase: Where is it found and why does it do what it does?

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Found in the liver and pancreatic beta cells. Phosphorylates glucose to sequester it after a big meal.

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Q0148:Hexokinase: Where is it found and why does it do what it does?

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Found in every cell's cytoplasm. Phosphorylates glucose to proceed with glycolysis.

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Q0149:What are the net reactants and products in glycolysis.

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Reactants;1. Glucose;2. 2 Phosphates;3. 2 ADP;4. 2 NAD;Products;1. 2 Pyruvate;2. 2 ATP;3. 2 NADH;4. 2 H+;5. 2 H20

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Q0150:What are the rate limiting steps of glycolysis?

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1. Hexokinase (Glucose to Glucose-6-P);2. *Phosphofructokinase-1 (Fructose-6-P to Fructose-1;6BP);3. Pyruvate kinase (Phosphoenolpyruvate to Pyruvate)

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Q0151:Phosphofructokinase-1: What does it do; and what stimulates and inhibits it?

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PFK-1 1-phosphorylates fructose-6-phosphate to produce Fructose-1;6-Bisphosphate;Inhibited by;1. ATP (don't need more of me);2. Citrate (my cycle is going well);Stimulated by;1. AMP (Hey; we need more ATP);2. Fructose-2;6-BP (The fact that I'm being made means there's tons of glucose.)

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Q0152:Pyruvate kinase: What does it do; and what stimulates and inhibits it?

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Pyruvate kinase converts phosphoenolpyruvate to pyruvate; thereby producing two ATP;Inhibited by;1. ATP (don't need more of me);2. Alanine (I came from pyruvate; so we don't need any more.);Stimulated by;1. Fructose-1;6-BP (I was told we needed more ATP; so here I am; so you better move the line along.)
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Q0153:Pyruvate dehydrogenase: What does it do; and what stimulates and inhibits it?

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Pyruvate dehydrogenase converts pyruvate to acetyl-coA; and produces NADH and CO2;Stimulated by: excess pyruvate?;Inhibited by;1. NADH (Listen; seriously; we don't need anymore of me.);2. NADH (You produce NADH; soon there'll be more of me.);3. Acetyl-CoA (Enough of me; save your pyrvuate.)
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Q0154:What disease state is glycolytic enzyme deficiency generally associated with?

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Hemolytic anemia

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Q0155:What is the mechanism of hemolytic anemia in someone with glycolytic enzyme deficiency?

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1. Lack of glycolysis leads to lack of ATP in RBCs;2. Lack of ATP leads to inactivity of Na; K-ATPase pump;3. Lack of the pump leads to sodium influx;4. Water follows sodium into the cell;5. The cell swells and bursts.

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Q0156:What are the two most common glycolytic enzyme deficiencies?

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Pyruvate kinase (95% of cases) followed by glucose phosphate isomerase (4% of cases)

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Q0157:What are the 5 cofactors necessary for pyrvuate dehydrogenase?

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Lipoic acid plus the first four B vitamins in their active forms;1. B1: TPP;2. B2: FAD;3. B3: NAD;4. B5: CoA

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Q0158:What are the 5 cofactors necessary for alphaketoglutarate dehydrogenase?

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Lipoic acid plus the first four B vitamins in their active forms;1. B1: TPP;2. B2: FAD;3. B3: NAD;4. B5: CoA

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Q0159:What are the net reactants and products in the reaction that Pyruvate Dehydrogenase catalyzes?

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Reactants;1. Pyruvate;2. CoA;3. NAD;Products;1. Acetyl CoA;2. CO2;3. NADH

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Q0160:What activates and what inhibits pyruvate dehydrogenase?

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Genetics Flash Facts

Activated by exercise; which stimulates;1. Increased NAD/NADH ratio (We need more NADH.);2. Increased ADP (We need more ATP.);3. Ca2+ (More of me leads muscles to contract; and I'm taken up by mitochondria where I tell PDH that we need more ATP.);Inhibited by;1. NADH (No more of me please);2. ATP (likewise);3. Acetyl CoA (ditto)
320

Genetics Flash Facts

Q0161:Lipoamide or lipoate: Which carries aldehydes?

321

Genetics Flash Facts

Lipoamide

322

Genetics Flash Facts

Q0162:Lipoamide or lipoate: Which is a cofactor for pyruvate dehydrogenase?

323

Genetics Flash Facts

Lipoate (Lipoic acid)

324

Genetics Flash Facts

Q0163:What toxin inhibits lipoic acid?

325

Genetics Flash Facts

Arsenic

326

Genetics Flash Facts

Q0164:What is the presentation of arsenic toxicity?

327

Genetics Flash Facts

1. Vomiting;2. Rice water stools;3. Garlic breath

328

Genetics Flash Facts

Q0165:Pyruvate dehydrogenase deficiency: Mechanism

329

Genetics Flash Facts

Backup of pyruvate and alanine leads to lactic acidosis.

330

Genetics Flash Facts

Q0166:Pyruvate dehydrogenase deficiency: Congenital or Acquired

331

Genetics Flash Facts

Both. Acquired cases happen in cases of B1 deficiency (such as in alcoholics.)

332

Genetics Flash Facts

Q0167:Pyruvate dehydrogenase deficiency: Presentation

333

Genetics Flash Facts

Lactic acidosis and neurologic defects

334

Genetics Flash Facts

Q0168:Pyruvate dehydrogenase deficiency: Treatment

335

Genetics Flash Facts

Increased intake of ketogenic nutrients (such as high fat content or increased lysine and leucine)

336

Genetics Flash Facts

Q0169:What are the miscellaneous fates of pyruvate; and what are the end products used for?

337

Genetics Flash Facts

1. Alanine: Carries amino groups to the liver from muscle;2. Oxaloacetate: Replenishes TCA cycle or is used gluconeogenesis;3. Acetyl-CoA: Used in TCA cycle;4. Lactate: No good use

338

Genetics Flash Facts

Q0170:Which tissues and organs primarily convert pyruvate into lactate?

339

Genetics Flash Facts

1. RBCs and WBCs;2. Lens and cornea;3. Renal medulla;4. Testes

340

Genetics Flash Facts

Q0171:What enzymes and cofactors are used in conversion of pyruvate to alanine?

341

Genetics Flash Facts

Enzyme: Alanine Transaminase (ALT);Cofactors: None

342

Genetics Flash Facts

Q0172:What enzymes and cofactors are used in conversion of pyruvate to oxaloacetate?

343

Genetics Flash Facts

Enzyme: Pyruvate Carboxylase (contains biotin and magnesium);Cofactors: CO2 and ATP

344

Genetics Flash Facts

Q0173:What are the reactants and products in the reaction catalyzed by pyruvate carboxylase?

345

Genetics Flash Facts

Reactant;Pyruvate (with CO2 and ATP);Product;Oxaloacetate

346

Genetics Flash Facts

Q0174:What are the reactants and products in the reaction catalyzed by lactate dehydrogenase?

347

Genetics Flash Facts

This reaction is reversible; so the products can switch with the reactants;Reactants;1. Pyruvate;2. NADH (rehydrogenates in this direction);3. H+;Products;1. Lactate;2. NAD

348

Genetics Flash Facts

Q0175:Where do the various pyruvate transformation reactions happen?

349

Genetics Flash Facts

Cytosol;1. ALT (Alanine to/from pyruvate);2. LDH (Lactate to/from pyruvate);Mitochondria;1. Pyruvate carboxylase (pyruvate to oxaloacetate);2. Pyruvate dehydrogenase (pyruvate to acetyl-coa)

350

Genetics Flash Facts

Q0176:Where does the Cori Cycle happen?

351

Genetics Flash Facts

In the liver and muscle/RBCs;Liver: Pyruvate converts to glucose;Muscle/RBCs: Glucose converts to Pyruvate

352

Genetics Flash Facts

Q0177:What is the purpose of the Cori cycle?

353

Genetics Flash Facts

Transfers excess reducing equivalents from RBCs and the muscle to liver so they can function anaerobically

354

Genetics Flash Facts

Q0178:What reaction does citrate synthase catalyze?

355

Genetics Flash Facts

Oxaloacetate and acetyl coA combine to yield citrate.

356

Genetics Flash Facts

Q0179:What is the order of the citric acid cycle beginning at citrate?

357

Genetics Flash Facts

CAn I Keep Selling Sex For Money; Officer?;1. Citrate;2. cisAconitate;3. Isocitrate;4. alpha-Ketoglutarate;5. Succinyl CoA;6. Succinate;7. Fumarate;8. Malate;9. Oxaloacetate

358

Genetics Flash Facts

Q0180:What is the order of the citric acid cycle beginning at cis-aconitate?

359

Genetics Flash Facts

1. cis-Aconitate;2. Isocitrate;3. alpha-ketoglutarate;4. succinyl coA;5. succinate;6. fumarate;7. money;8. oxaloacetate;9. citrate

360

Genetics Flash Facts

Q0181:What is the order of the citric acid cycle beginning at isocitrate?

361

Genetics Flash Facts

1. isocitrate;2. alpha-ketoglutarate;3. succinyl coa;4. succinate;5. fumarate;6. malate;7. oxaloacetate;8. citrate;9. cisaconitate

362

Genetics Flash Facts

Q0182:What is the order of the citric acid cycle beginning at alpha-ketoglutarate?

363

Genetics Flash Facts

1. alpha-ketoglutarate;2. succinyl coA;3. succinate;4. fumarate;5. malate;6. oxaloacetate;7. citrate;8. cis-aconitate;9. isocitrate

364

Genetics Flash Facts

Q0183:What is the order of the citric acid cycle beginning at succinyl coA?

365

Genetics Flash Facts

1. succinyl coA;2. succinate;3. fumarate;4. malate;5. oxaloacetate;6. citrate;7. cis-aconitate;8. isocitrate;9. alphaketoglutarate

366

Genetics Flash Facts

Q0184:What is the order of the citric acid cycle beginning at succinate?

367

Genetics Flash Facts

Sex Feels Marvelous Over Cordelia And If Kruti Sucks-aNeil;1. Succinate;2. Fumarate;3. Malate;4. Oxaloacetate;5. Citrate;6. cis-aconitate;7. Isocitrate;8. alpha-ketoglutarate;9. succinyl coA

368

Genetics Flash Facts

Q0185:What is the order of the citric acid cycle beginning at fumarate?

369

Genetics Flash Facts

1. fumarate;2. malate;3. oxaloacetate;4. citrate;5. cisaconitate;6. isocitrate;7. alpha-ketoglutarate;8. succinyl coA;9. succinate

370

Genetics Flash Facts

Q0186:What is the order of the citric acid cycle beginning at malate?

371

Genetics Flash Facts

1. malate;2. oxaloacetate;3. citrate;4. cis-aconitate;5. isocitrate;6. alpha-ketoglutarate;7. succinyl coA;8. succinate;9. fumarate

372

Genetics Flash Facts

Q0187:What is the order of the citric acid cycle beginning at oxaloacetate?

373

Genetics Flash Facts

1. oxaloacetate;2. citrate;3. cis-aconitate;4. isocitrate;5. alphaketoglutarate;6. succinyl coA;7. succinate;8. fumarate;9. malate

374

Genetics Flash Facts

Q0188:What stimulates and inhibits citrate synthase?

375

Genetics Flash Facts

Stimulate: Nothing;Inhibit: ATP

376

Genetics Flash Facts

Q0189:What stimulates and inhibits isocitrate dehydrogenase?

377

Genetics Flash Facts

Stimulate: ADP;Inhibit;1. ATP;2. NADH

378

Genetics Flash Facts

Q0190:What stimulates and inhibits alpha-ketoglutarate dehydrogenase?

379

Genetics Flash Facts

Stimulate: Nothing;Inhibit;1. ATP;2. NADH;3. Succinyl CoA

380

Genetics Flash Facts

Q0191:Which steps in the citric acid cycle produce CO2?

381

Genetics Flash Facts

The steps where carbons are lost; the two structures after isocitrate each have one less carbon than the last;1. Isocitrate to alpha-ketoglutarate;2. alpha-ketoglutarate to succinyl coA

382

Genetics Flash Facts

Q0192:Which steps in the citric acid cycle produce reducing equivalents?

383

Genetics Flash Facts

The only step that produces FADH2 is the only one that also yields an F product;1. Isocitrate to alpha ketoglutarate (1 NADH);2. alpha-ketoglutarate to succinyl coA (1 NADH);3. Succinate to Fumarate (1 FADH2);4. Malate to Oxaloacetate (1 NADH)

384

Genetics Flash Facts

Q0193:Which steps in the citric acid cycle produce ATP?

385

Genetics Flash Facts

None; however 1 GTP is produced from the conversion of Succinyl CoA to Succinate.

386

Genetics Flash Facts

Q0194:How much ATP is produced by the citric acid cycle per molecule of acetyl coA?

387

Genetics Flash Facts

12 ATP;3 NADH x 3 ATP/NADH= 9 ATP;1 FADH2 x 2 ATP/FADH2 = 2 ATP;1 GTP x 1 ATP/GTP = 1 ATP;The total is 12 ATP

388

Genetics Flash Facts

Q0195:How much ATP is produced by the citric acid cycle per molecule of glucose?

389

Genetics Flash Facts

24;1 cycle;3 ATP/NADH= 9 ATP;1 FADH2 x 2 ATP/FADH2 = 2 ATP;1 GTP x 1 ATP/GTP = 1 ATP;The total is 12 ATP per acetyl coA. However; there are 2 acetyl coA molecules produced per glucose molecule. Thus the total is 24.

390

Genetics Flash Facts

Q0196:Name the complexes and important coenzymes and cytochromes in the electron transport chain.

391

Genetics Flash Facts

1. Complex I;2. Coenzyme Q;3. Complex III;4. Cytochrome C;5. Complex IV;6. Complex V

392

Genetics Flash Facts

Q0197:Where in the electron transport chain do NADH and FADH2 release their electrons?

393

Genetics Flash Facts

Complex I

394

Genetics Flash Facts

Q0198:Where in the electron transport chain is O2 reduced to 2H2O?

395

Genetics Flash Facts

Complex IV

396

Genetics Flash Facts

Q0199:Where in the electron transport chain is ADP converted to ATP?

397

Genetics Flash Facts

Complex V aka ATP synthase aka mitochondrial ATPase

398

Genetics Flash Facts

Q0200:Name three classes of oxidative phosphorylation poisons.

399

Genetics Flash Facts

1. Electron transport inhibitors;2. ATPase inhibitors;3. Uncoupling agents

400

Genetics Flash Facts

Q0201:What is the mechanism of electron transport inhibitors?

401

Genetics Flash Facts

1. Directly inhibit electron transport causing;2. Decreased protein gradient and decrease in O2 consumption; thereby;3. Blocking ATP synthesis

402

Genetics Flash Facts

Q0202:What is the mechanism of ATPase inhibitors?

403

Genetics Flash Facts

1. Directly inhibit mitochondrial ATPase causing;2. Increased protein gradient and increased oxygen consumption; but no ATP is produced because electron transport stops.

404

Genetics Flash Facts

Q0203:What is the mechanism of uncoupling agents?

405

Genetics Flash Facts

"Uncouples" ATP synthesis from gradient production;1. Increase permeability of membrane;2. Proton gradient decreases; but oxygen consumption increases; as the gradient is not being maintained;3. ATP synthesis stops; but electron transport continues.

406

Genetics Flash Facts

Q0204:What is rotenone?

407

Genetics Flash Facts

An electron transport inhibitor.

408

Genetics Flash Facts

Q0205:What is the mechanism of CN?

409

Genetics Flash Facts

Electron transport inhibition

410

Genetics Flash Facts

Q0206:What is the mechanism of CO?

411

Genetics Flash Facts

Electron transport inhibition

412

Genetics Flash Facts

Q0207:What is antimycin A?

413

Genetics Flash Facts

An electron transport inhibitor.

414

Genetics Flash Facts

Q0208:What is the mechanism of oligomycin?

415

Genetics Flash Facts

ATPase inhibition

416

Genetics Flash Facts

Q0209:What is the mechanism of thermogenin?

417

Genetics Flash Facts

Uncoupling protein OR UCP which is an uncoupling agent

418

Genetics Flash Facts

Q0210:Where is thermogenin found?

419

Genetics Flash Facts

Brown adipose tissue

420

Genetics Flash Facts

Q0211:What is the mechanism of 2;4-dinitrophenol?

421

Genetics Flash Facts

Uncoupling agent

422

Genetics Flash Facts

Q0212:Name three uncoupling agents

423

Genetics Flash Facts

1. UCPs (such as Thermogenin);2. 2;4-dinitrophenol;3. aspirin

424

Genetics Flash Facts

Q0213:Name the irreversible enzymes in gluconeogenesis; and where they are found.

425

Genetics Flash Facts

Pathway Produces Fresh Glucose;All the enzymes are found only in the liver; kidney; and intestinal epithelium;1. Pyruvate carboxylase in the mitochondria;2. PEP carboxykinase in the cytosol;3. Fructose-1;6-bisphosphatase in the cytosol;4. Glucose-6-Phosphatase in the endoplasmic reticulum

426

Genetics Flash Facts

Q0214:Name the irreversible enzymes in glycolysis.

427

Genetics Flash Facts

1. Hexokinase;2. Phosphofructokinase-1;3. Pyruvate kinase;4. Pyruvate dehydrogenase

428

Genetics Flash Facts

Q0215:What are the requirements of PEP carboxykinase?

429

Genetics Flash Facts

GTP

430

Genetics Flash Facts

Q0216:Where does the pentose phosphate pathway happen?

431

Genetics Flash Facts

Cytoplasm of Red Blood Cells; and in lactating mammary glands; liver; and adrenal cortex (all sites of fatty acid or steroid synthesis except RBCs)

432

Genetics Flash Facts

Q0217:How much ATP is used in the pentose phosphate shunt?

433

Genetics Flash Facts

434

Genetics Flash Facts

Q0218:What are the main products of the pentose phosphate shunt and their uses?

435

Genetics Flash Facts

1. NADPH (for fatty acid and steroid synthesis; glutathione reduction; and cytochrome P-450);2. Ribose-5-phosphate (for nucleotide synthesis);3. G3P and F6P (glycolytic intermediates)

436

Genetics Flash Facts

Q0219:What are the key enzymes of the pentose phosphate shunt and are the reactions reversible or irreversible?

437

Genetics Flash Facts

1. Glucose-6-phosphate dehydrogenase (irreversible);2. Transketolase (reversible)

438

Genetics Flash Facts

Q0220:What does transketolase require?

439

Genetics Flash Facts

Thiamine (Vitamin B1)

440

Genetics Flash Facts

Q0221:What is the rate-limiting enzyme in the Pentose phosphate pathway?

441

Genetics Flash Facts

Glucose-6-Phosphate Dehydrogenase

442

Genetics Flash Facts

Q0222:What is glutathione used for?

443

Genetics Flash Facts

Detoxification of free radicals and peroxides.

444

Genetics Flash Facts

Q0223:What does NADPH deficiency in RBCs result in?

445

Genetics Flash Facts

Hemolytic anemia

446

Genetics Flash Facts

Q0224:Name some oxidizing agents that someone with a G6PD deficiency is vulnerable to.

447

Genetics Flash Facts

1. Fava beans;2. Sulfonamides;3. Primaquine;4. Antituberculosis drugs

448

Genetics Flash Facts

Q0225:What protection does G6PD deficiency provide?

449

Genetics Flash Facts

Protection against malaria

450

Genetics Flash Facts

Q0226:Which group is more likely to have G6PD deficiency?

451

Genetics Flash Facts

Blacks

452

Genetics Flash Facts

Q0227:What are Heinz bodies?

453

Genetics Flash Facts

altered Hemoglobin precipitates within RBCs; found in G6PD deficiency

454

Genetics Flash Facts

Q0228:What histologic change is seen in G6PD deficiency

455

Genetics Flash Facts

Heinz bodies within red blood cells

456

Genetics Flash Facts

Q0229:What is the etiology of fructose intolerance?

457

Genetics Flash Facts

1. Lack of aldolase B;2. Build up of Fructose-1-Phosphate;3. Decrease in available phosphate;4. Inhibition of glycogenolysis and gluconeogenesis

458

Genetics Flash Facts

Q0230:What is the clinical presentation of fructose intolerance?

459

Genetics Flash Facts

hypoglycemia; jaundice; cirrhosis; and vomiting

460

Genetics Flash Facts

Q0231:What is the difference in presentation between von Gierke's disease and fructose intolerance?

461

Genetics Flash Facts

Both have hypoglycemia; jaundice; cirrhosis and vomiting;von Gierke's disease also has lactic acidosis whereas fructose intolerance does not.

462

Genetics Flash Facts

Q0232:What is the treatment for fructose intolerance?

463

Genetics Flash Facts

Decreased intake of both fructose and sucrose.

464

Genetics Flash Facts

Q0233:What is the etiology of essential fructosuria?

465

Genetics Flash Facts

Defect in fructokinase leading to lack of metabolism of fructose. Benign and asymptomatic

466

Genetics Flash Facts

Q0234:What is the clinical presentation of essential fructosuria?

467

Genetics Flash Facts

Fructose appears in the blood and urine

468

Genetics Flash Facts

Q0235:Which is more serious; essential fructosuria or fructose intolerance?

469

Genetics Flash Facts

Fructose intolerance; because it depletes the cells of phosphate.

470

Genetics Flash Facts

Q0236:What is the etiology of classic galactosemia?

471

Genetics Flash Facts

1. Absence of galactose-1-phosphate uridyl transferase;2. Build up of toxic substances including galactitol

472

Genetics Flash Facts

Q0237:What is the presentation of classic galactosemia?

473

Genetics Flash Facts

Early;1. Galactosemia;2. Galactosuria;3. Vomiting;4. Diarrhea;5. Jaundice;Late;1. Cataracts;2. Hepatosplenomegaly;3. Mental retardation

474

Genetics Flash Facts

Q0238:How does galactokinase deficiency present?

475

Genetics Flash Facts

1. Galactosemia;2. Galactosuria;More severe symptoms such as cataracts; hepatosplenomegaly and mental retardation can follow.

476

Genetics Flash Facts

Q0239:What is the treatment for classic galactosemia?

477

Genetics Flash Facts

Exclude galactose and lactose from the diet.

478

Genetics Flash Facts

Q0240:What enzyme converts galactose to galactitol?

479

Genetics Flash Facts

Aldose reductase

480

Genetics Flash Facts

Q0241:What does aldose reductase do?

481

Genetics Flash Facts

Converts galactose to galactitol

482

Genetics Flash Facts

Q0242:What enzyme converts Galactose to galactose-1phosphate?

483

Genetics Flash Facts

Galactokinase

484

Genetics Flash Facts

Q0243:What enzyme converts Galactose-1-Phosphate to Glucose-1-Phosphate?

485

Genetics Flash Facts

Uridyl transferase

486

Genetics Flash Facts

Q0244:What enzyme converts UDP-galactose to UDPglucose?

487

Genetics Flash Facts

4-epimerase

488

Genetics Flash Facts

Q0245:What does galactokinase do?

489

Genetics Flash Facts

converts Galactose to galactose-1-phosphate

490

Genetics Flash Facts

Q0246:What does 4-epimerase do?

491

Genetics Flash Facts

converts between UDP-galactose and UDP-glucose

492

Genetics Flash Facts

Q0247:What does Uridyl transferase do?

493

Genetics Flash Facts

1. converts UDP-glucose to UDP-galactose;2. converts Galactose-1-Phosphate to Glucose-1-Phosphate

494

Genetics Flash Facts

Q0248:What enzyme converts UDP-glucose to UDPgalactose?

495

Genetics Flash Facts

Uridyl transferase

496

Genetics Flash Facts

Q0249:Which groups are more likely to be lactose intolerant?

497

Genetics Flash Facts

1. Blacks;2. Asians

498

Genetics Flash Facts

Q0250:What is the etiology of lactose intolerance?

499

Genetics Flash Facts

Loss of brush-border lactase

500

Genetics Flash Facts

Q0251:How does lactose intolerance present?

501

Genetics Flash Facts

1. Bloating;2. Cramps;3. Osmotic diarrhea

502

Genetics Flash Facts

Q0252:What is the treatment for lactose intolerance?

503

Genetics Flash Facts

Avoid milk or add lactase pills to the diet

504

Genetics Flash Facts

Q0253:What are the essential amino acids?

505

Genetics Flash Facts

PVT TIM HALL;1. Phenylalanine;2. Valine;3. Threonine;4. Tryptophan;5. Isoleucine;6. Methionine;7. Histidine;8. Alanine;9. Leucine;10. Lysine

506

Genetics Flash Facts

Q0254:What are the conditionally essential amino acids; and why are they conditionally essential?

507

Genetics Flash Facts

The condition is age. They are necessary early in life during growth;Mnemonic: Babies CRY for Help;1. Cysteine;2. aRginine;3. tYrosine;4. Histidine

508

Genetics Flash Facts

Q0255:Cysteine or Cystine: The amino acid

509

Genetics Flash Facts

Cysteine

510

Genetics Flash Facts

Q0256:Cysteine or Cystine: Two copies of the amino acid joined by a disulfide bond

511

Genetics Flash Facts

Cystine

512

Genetics Flash Facts

Q0257:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Phenylalanine

513

Genetics Flash Facts

Essential;Both glucogenic and ketogenic

514

Genetics Flash Facts

Q0258:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Valine

515

Genetics Flash Facts

Essential;Glucogenic

516

Genetics Flash Facts

Q0259:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Tryptophan

517

Genetics Flash Facts

Essential;Both glucogenic and ketogenic

518

Genetics Flash Facts

Q0260:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Threonine

519

Genetics Flash Facts

Essential;Both glucogenic and ketogenic

520

Genetics Flash Facts

Q0261:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Isoleucine

521

Genetics Flash Facts

Essential;Both glucogenic and ketogenic

522

Genetics Flash Facts

Q0262:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Methionine

523

Genetics Flash Facts

Essential;Glucogenic

524

Genetics Flash Facts

Q0263:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Histidine

525

Genetics Flash Facts

Essential;Glucogenic

526

Genetics Flash Facts

Q0264:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Arginine

527

Genetics Flash Facts

Essential;Glucogenic

528

Genetics Flash Facts

Q0265:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Leucine

529

Genetics Flash Facts

Essential;Ketogenic

530

Genetics Flash Facts

Q0266:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Lysine

531

Genetics Flash Facts

Essential;Ketogenic

532

Genetics Flash Facts

Q0267:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Tyrosine

533

Genetics Flash Facts

Conditionally essential (during life and early growth);(Phenylalanine and Tetrahydrobiopterin produce tyrosine and dihydrobiopterin);Both glucogenic and ketogenic

534

Genetics Flash Facts

Q0268:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Glutamate

535

Genetics Flash Facts

Inessential (made from alpha-ketoglutarate);Glucogenic

536

Genetics Flash Facts

Q0269:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Aspartate

537

Genetics Flash Facts

Inessential (made from asparagine or oxaloacetate by aspartate aminotransferase);Glucogenic

538

Genetics Flash Facts

Q0270:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Proline

539

Genetics Flash Facts

Inessential (Glutamate makes proline and ornithine);Glucogenic

540

Genetics Flash Facts

Q0271:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Glycine

541

Genetics Flash Facts

Inessential (synthesized during reactions involving tetrahydrofolate);Glucogenic

542

Genetics Flash Facts

Q0272:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Cysteine

543

Genetics Flash Facts

Conditionally essential (during life and early growth);(Methionine begets S-adenosyl methionine which begets intermediates which beget cysteine);Glucogenic

544

Genetics Flash Facts

Q0273:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Alanine

545

Genetics Flash Facts

Inessential (made from pyruvate by alanine aminotransferase in the Cori cycle);Glucogenic

546

Genetics Flash Facts

Q0274:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Serine

547

Genetics Flash Facts

Inessential (made from a descendant of 3PG and with an amine group from glutamate);Glucogenic

548

Genetics Flash Facts

Q0275:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Glutamine

549

Genetics Flash Facts

Inessential (made from glutamate);Glucogenic

550

Genetics Flash Facts

Q0276:Is the following amino acid essential or inessential; and is it glucogenic; ketogenic; or both?: Asparagine

551

Genetics Flash Facts

Inessential (made from aspartate);Glucogenic

552

Genetics Flash Facts

Q0277:Which amino acids are acidic?

553

Genetics Flash Facts

Aspartate and glutamate are negatively charged at body pH

554

Genetics Flash Facts

Q0278:Which amino acids are basic?

555

Genetics Flash Facts

Arginine; Lysine and Histidine;Arginine and Lysine are increased in histones which bind negatively charged DNA;Histidine has no charge at body pH.

556

Genetics Flash Facts

Q0279:Zinc deficiency: Presentation

557

Genetics Flash Facts

"Delayed wound healing; hypogonadism; and decreased adult hair (axillary; facial; pubic)"

558

Genetics Flash Facts

Q0280:Zinc deficiency: Predisposes to what?

559

Genetics Flash Facts

Alcoholic cirrhosis

560

Genetics Flash Facts

Q0281:Ethanol metabolism: All steps with enzymes and cofactors

561

Genetics Flash Facts

"Step 1: Ethanol is oxidized by NAD (forming NADH) to acetaldehyde using alcohol dehydrogenase. Step 2: Acetaldehyde is oxidized by NAD (forming NADH) to acetate using acetaldehyde dehydrogenase."

562

Genetics Flash Facts

Q0282:Ethanol metabolism: Limiting reagent

563

Genetics Flash Facts

NAD+

564

Genetics Flash Facts

Q0283:Ethanol metabolism: Order of kinetics of alcohol dehydrogenase

565

Genetics Flash Facts

Zero-order kinetics

566

Genetics Flash Facts

Q0284:Disulfiram: Mechanism

567

Genetics Flash Facts

"Disulfiram inhibits acetaldehyde dehydrogenase; leading to an accumulation of acetaldehyde; leading to increased hangover symptoms."

568

Genetics Flash Facts

Q0285:Which drug inhibits acetaldehyde dehydrogenase?

569

Genetics Flash Facts

Disulfiram

570

Genetics Flash Facts

Q0286:Ethanol hypoglycemia: mechanism

571

Genetics Flash Facts

"1. Ethanol metabolism increases NADH/NAD ratio in the liver. 2. Pyruvate and oxaloacetate are reduced by NADH respectively to lactate and malate. 3. Decreased pyruvate and oxaloacetate leads to decreased gluconeogenesis. 4. Decreased gluconeogenesis leads to hypoglycemia."

572

Genetics Flash Facts

Q0287:What are the consequences of the altered NADH/NAD ratio seen in alcoholics?

573

Genetics Flash Facts

"Short-term: Hypoglycemia; Long-term: Hepatic fatty change"

574

Genetics Flash Facts

Q0288:What is the mechanism behind chronic fatty change in alcoholics?

575

Genetics Flash Facts

"1. Ethanol metabolism leads to an increased NADH/NAD ratio in the liver. 2. This ratio prefers fatty acid synthesis over glycolysis."

576

Genetics Flash Facts

Q0289:Kwashiorkor: Clinical picture

577

Genetics Flash Facts

Small child with a swollen belly and depigmented hair.

578

Genetics Flash Facts

Q0290:Kwashiorkor: Clinical presentation

579

Genetics Flash Facts

"Kwashiorkor results from protein-deficient MEALS. Malabsorbtion; Edema; Anemia; Liver (fatty change); Skin lesions"

580

Genetics Flash Facts

Q0291:Protein malnutrition leads to what disease?

581

Genetics Flash Facts

Kwashiorkor (as opposed to Marasmus from energy malnutrition)

582

Genetics Flash Facts

Q0292:Energy malnutrition leads to what disease?

583

Genetics Flash Facts

Marasmus (as opposed to Kwashiorkor from protein malnutrition)

584

Genetics Flash Facts

Q0293:Marasmus: Clinical presentation

585

Genetics Flash Facts

"Tissue and muscle wasting; loss of subcutaneous fat; and variable edema"

586

Genetics Flash Facts

Q0294:"Chromatin structure: In the beads on a string analogy; what are the beads?"

587

Genetics Flash Facts

"Start with a nucleosome core made up of an 8 histone cube (two each of positively-charged histones H2A; H2B; H3; and H4). Negatively charged DNA loops twice around nucleosome core."

588

Genetics Flash Facts

Q0295:"Chromatin structure: In the beads on a string analogy; what is the string and how long is it?"

589

Genetics Flash Facts

Histone H1 ties the nucleosomes together in a 30-nm fiber string

590

Genetics Flash Facts

Q0296:Chromatin structure: What histones are included and which of these are not in the nucleosome core?

591

Genetics Flash Facts

"H1 (only one not in the core); H2A; H2B; H3; and H4"

592

Genetics Flash Facts

Q0297:Heterochromatin or Euchromatin: Which is more condensed?

593

Genetics Flash Facts

Heterochromatin. Euchromatin is less condensed.

594

Genetics Flash Facts

Q0298:Heterochromatin or Euchromatin: Which is less condensed?

595

Genetics Flash Facts

Euchromatin. Heterochromatin is more condensed.

596

Genetics Flash Facts

Q0299:Heterochromatin or Euchromatin: Which is transcriptionally active?

597

Genetics Flash Facts

"Euchromatin (""eu"" means true; so think ""truly transcribed"")"

598

Genetics Flash Facts

Q0300:Heterochromatin or Euchromatin: Which is transcriptionally inactive?

599

Genetics Flash Facts

Heterochromatin

600

Genetics Flash Facts

Q0301:Name the purines.

601

Genetics Flash Facts

Adenine and Guanine

602

Genetics Flash Facts

Q0302:Name the pyrimidines.

603

Genetics Flash Facts

"Cytosine; Uracil; Thymine"

604

Genetics Flash Facts

Q0303:Which base pair bond has 3 Hydrogen bonds?

605

Genetics Flash Facts

Guanine to Cytosine

606

Genetics Flash Facts

Q0304:Which base pair bond has 2 Hydrogen bonds?

607

Genetics Flash Facts

Adenine to Thymine

608

Genetics Flash Facts

Q0305:How many Hydrogen bonds does the Guanine to Cytosine pairing have?

609

Genetics Flash Facts

610

Genetics Flash Facts

Q0306:How many Hydrogen bonds does the Adenine to Thymine pairing have?

611

Genetics Flash Facts

612

Genetics Flash Facts

Q0307:Which amino acids are necessary for purine synthesis?

613

Genetics Flash Facts

"Glycine; Aspartate; Glutamine"

614

Genetics Flash Facts

Q0308:"In nucleic acids; what kind of substitution is a transition?"

615

Genetics Flash Facts

"TransItion = Identical type (Purine for purine or pyrimidine for pyrimidine")

616

Genetics Flash Facts

Q0309:"In nucleic acids; what kind of substitution is a transversion?"

617

Genetics Flash Facts

"TransVersion = conVersion between types (Purine for pyrimidine or vice versa")

618

Genetics Flash Facts

Q0310:What does it mean for genetic code to be unambiguous?

619

Genetics Flash Facts

Each codon specifies only one amino acid.

620

Genetics Flash Facts

Q0311:What does it mean for genetic code to be degenerate?

621

Genetics Flash Facts

More than one codon may code for the same amino acid.

622

Genetics Flash Facts

Q0312:What does it mean for genetic code to be redundant?

623

Genetics Flash Facts

More than one codon may code for the same amino acid.

624

Genetics Flash Facts

Q0313:Which amino acid is coded by only one codon?

625

Genetics Flash Facts

Methionine

626

Genetics Flash Facts

Q0314:"~ average pKa of carboxyl group on AA"

627

Genetics Flash Facts

2.3

628

Genetics Flash Facts

Q0315:"~ pKa of side chain of Aspartic Acid"

629

Genetics Flash Facts

"<4"

630

Genetics Flash Facts

Q0316:"~ pKa of side chain of Glutamic Acid"

631

Genetics Flash Facts

">4"

632

Genetics Flash Facts

Q0317:"~ pKa of side chain of Histidine"

633

Genetics Flash Facts

634

Genetics Flash Facts

Q0318:"~ pKa of side chain of Cysteine"

635

Genetics Flash Facts

636

Genetics Flash Facts

Q0319:"~ average pKa of amino group on AA"

637

Genetics Flash Facts

9.6

638

Genetics Flash Facts

Q0320:"~ pKa of side chain of Tyrosine"

639

Genetics Flash Facts

10

640

Genetics Flash Facts

Q0321:"~ pKa of side chain of Lysine"

641

Genetics Flash Facts

10.5

642

Genetics Flash Facts

Q0322:"~ pKa of side chain of Arginine"

643

Genetics Flash Facts

12.5

644

Genetics Flash Facts

Q0323:"An acid with a pKa of x serves as a buffer best at x + what?"

645

Genetics Flash Facts

"positive or negative 1 (equal amounts of charged and uncharged acid)"

646

Genetics Flash Facts

Q0324:"Trypsin cleaves peptides at which side of what residues?"

647

Genetics Flash Facts

"C-terminal of lysine or arginine (the most basic amino acids)"

648

Genetics Flash Facts

Q0325:"Cyanogen bromide cleaves peptides at which side of what residues?"

649

Genetics Flash Facts

"C-terminal of methionine"

650

Genetics Flash Facts

Q0326:"Pepsin cleaves peptides at which side of what residues?"

651

Genetics Flash Facts

"C-terminal side of tyrosine; phenylalanine; and tryptophan (all have phenyl groups; these are the same bonds as chymotrypsin. Pepsin's action ceases when the NaHCO3 raises the pH of the intestinal contents)"

652

Genetics Flash Facts

Q0327:"Chymotrypsin cleaves peptides at which side of what residues?"

653

Genetics Flash Facts

"C-terminal side of tyrosine; phenylalanine; and tryptophan residues (all have phenyl groups; these are the same bonds as pepsin; whose action ceases when the NaHCO3 raises the pH of the intestinal contents)."

654

Genetics Flash Facts

Q0328:"# of aas in one turn of alpha-helix"

655

Genetics Flash Facts

3.6

656

Genetics Flash Facts

Q0329:"Amino acids that disrupt alpha-helix"

657

Genetics Flash Facts

"proline; many charged aas; bulky side chains"

658

Genetics Flash Facts

Q0330:"Which reagent sequentially removes N-terminal residues from a polypeptide?"

659

Genetics Flash Facts

"Phenylisothiocyanate (Edman degradation)"

660

Genetics Flash Facts

Q0331:"Which reagent sequentially removes C-terminal residues from a polypeptide?"

661

Genetics Flash Facts

"Carboxypeptidase"

662

Genetics Flash Facts

Q0332:"What kind of inheritance and mutation is the alpha-1antitrypsin deficiency?"

663

Genetics Flash Facts

"Autosomal recessive; single purine substitution (GAG to AAG)"

664

Genetics Flash Facts

Q0333:"Anode: What does it attract?"

665

Genetics Flash Facts

"Anions"

666

Genetics Flash Facts

Q0334:"Anode: What does it contain?"

667

Genetics Flash Facts

"Cations"

668

Genetics Flash Facts

Q0335:"Cathode: What does it attract?"

669

Genetics Flash Facts

"Cations"

670

Genetics Flash Facts

Q0336:"Cathode: What does it contain?"

671

Genetics Flash Facts

"Anions"

672

Genetics Flash Facts

Q0337:"Inhibitors of electron transport from FMNH2 to Coenzyme Q"

673

Genetics Flash Facts

"Amytal and Rotenone"

674

Genetics Flash Facts

Q0338:"Inhibitors of electron transport from Cytochrome b to Cytochrome c"

675

Genetics Flash Facts

"Antimycin A"

676

Genetics Flash Facts

Q0339:"Inhibitors of electron transport from Cytochrome a+a3 to Oxygen"

677

Genetics Flash Facts

"Cyanide; CO; and Sodium azide"

678

Genetics Flash Facts

Q0340:"Where do GLUT1 receptors predominate over other GLUT receptors?"

679

Genetics Flash Facts

"RBCs"

680

Genetics Flash Facts

Q0341:"Where do GLUT4 receptors predominate over other GLUT receptors?"

681

Genetics Flash Facts

"Adipose tissue and skeletal muscle"

682

Genetics Flash Facts

Q0342:"Which tissues have cotransport of glucose?"

683

Genetics Flash Facts

"Epithelial cells of the intestine; renal tubular cells; and choroid plexus"

684

Genetics Flash Facts

Q0343:"Which tissues (7) need glucose as fuel?"

685

Genetics Flash Facts

"Brain; RBCs; Renal medulla; lens; cornea; testes; exercising muscle"

686

Genetics Flash Facts

Q0344:"Where is pyruvate carboxylase found and not found?"

687

Genetics Flash Facts

"Found in mitochondria of liver and kidney cells; not foudn in mitochondria of muscle"

688

Genetics Flash Facts

Q0345:"Where is Fructose 1-6 bisphosphatase found?"

689

Genetics Flash Facts

"Liver and kidney"

690

Genetics Flash Facts

Q0346:"What is the Cori cycle?"

691

Genetics Flash Facts

"Lactate in muscle is shuttled to liver where it is turned into glucose."

692

Genetics Flash Facts

Q0347:"How does glucagon stimulate gluconeogenesis?"

693

Genetics Flash Facts

"Regulation of F2;6-BP and inactivation of Pyruvate Kinase via elevation of cAMP-dependent protein kinase A."

694

Genetics Flash Facts

Q0348:"This oxidation accounts for about two thirds of the total oxygen consumption and ATP production in most animals; including humans."

695

Genetics Flash Facts

"Oxidation of acetyl coA to CO2 and H2O."

696

Genetics Flash Facts

Q0349:"What inhibits pyruvate dehydrogenase?"

697

Genetics Flash Facts

"Acetyl CoA and NADH (no need for more of either). These activate PD kinase (Phosphorylates enzyme with ATP; which must be in abundance; so no more is needed)"

698

Genetics Flash Facts

Q0350:"What stimulates pyruvate dehydrogenase?"

699

Genetics Flash Facts

"ADP (need more ATP. Inhibits PD kinase and stimulates PD phosphatase.)"

700

Genetics Flash Facts

Q0351:"Which is active?: Phosphorylated or dephosphorylated pyruvate dehydrogenase"

701

Genetics Flash Facts

"Dephosphorylated."

702

Genetics Flash Facts

Q0352:"What inhibits citrate synthase?"

703

Genetics Flash Facts

"ATP and NADH (no need for more of either); Succinyl CoA (""Slow down partner; the guys ahead of you are trying to do their job!""); Acyl CoA fatty acid derivatives (Citrate provides acetyl CoA to synthesize fatty acids and activates acetyl CoA carboxylase; rate limiting enzyme of fatty acid synthesis)."
704

Genetics Flash Facts

Q0353:"Where in glycolysis and TCA does CO2 come off?"

705

Genetics Flash Facts

"3 places: Pyruvate to Acetyl CoA; Isocitrate to alphaketoglutarate; and alpha-ketoglutarate to Succinyl CoA"

706

Genetics Flash Facts

Q0354:"What is the rate-limiting step of the TCA?"

707

Genetics Flash Facts

"Isocitrate to alpha-ketoglutarate by isocitrate dehydrogenase"

708

Genetics Flash Facts

Q0355:"What activates isocitrate dehydrogenase?"

709

Genetics Flash Facts

"ADP"

710

Genetics Flash Facts

Q0356:"What inhibits isocitrate dehydrogenase?"

711

Genetics Flash Facts

"ATP and NADH"

712

Genetics Flash Facts

Q0357:"Sources of Succinyl CoA"

713

Genetics Flash Facts

"TCA intermediate; and from odd chained fatty acids; and from propionyl coA from metabolism of branched-chain amino acids."

714

Genetics Flash Facts

Q0358:"Uses of Succinyl CoA"

715

Genetics Flash Facts

"TCA intermediate; and biosynthesis of heme"

716

Genetics Flash Facts

Q0359:"Where in the TCA does NADH come from?"

717

Genetics Flash Facts

"Pyruvate to Acetyl CoA; Isocitrate to alpha-ketoglutarate; alpha-ketoglutarate to succinyl coA; Malate to Oxaloacetate"

718

Genetics Flash Facts

Q0360:"Where in the TCA does FADH2 come from my dear?"

719

Genetics Flash Facts

"Succinate to fumarate my sweet."

720

Genetics Flash Facts

Q0361:"Why is FAD used to oxidize succinate?"

721

Genetics Flash Facts

"Succinate is not powerful enough to reduce NAD."

722

Genetics Flash Facts

Q0362:"What are the important products of the HMP pathway?"

723

Genetics Flash Facts

"2 NADPH; Ribose; and glyceraldehyde-3-Phosphate and Fructose-6-phosphate"

724

Genetics Flash Facts

Q0363:"Which major metabolic reactions require Thiamine as a cofactor?"

725

Genetics Flash Facts

"TCA: Pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase; HMP shunt: Transketolase"

726

Genetics Flash Facts

Q0364:"What is NADPH used for?"

727

Genetics Flash Facts

"1. Reductive biosynthesis (eg fatty acids and steroids) 2. Reduction of oxygen directly (myeloperoxidase system's famed respiratory burst) and hydrogen peroxide indirectly (through reduction of glutathione) 3. Cytochrome P-450 mono-oxygenase system"

728

Genetics Flash Facts

Q0365:"What is the famed respiratory burst?"

729

Genetics Flash Facts

"The rapid conversion of O2 to superoxide using NADPH."

730

Genetics Flash Facts

Q0366:"What disease process is due to a missing respiratory burst?"

731

Genetics Flash Facts

"Chronic granulomatous disease"

732

Genetics Flash Facts

Q0367:"Where is the mutation for G6PD?"

733

Genetics Flash Facts

"Point mutation in coding region of the G6PD gene (Xlinked)"

734

Genetics Flash Facts

Q0368:"What is the relation of polyols to sugars?"

735

Genetics Flash Facts

"Polyols are monosaccharides where the carbonyl group is reduced to an alcohol."

736

Genetics Flash Facts

Q0369:"What is a glycoside?"

737

Genetics Flash Facts

"Carbohydrate attached to non-carbohydrate structures."

738

Genetics Flash Facts

Q0370:"What is a reducing sugar?"

739

Genetics Flash Facts

"A monosaccharide where the anomeric carbon (Carbon 1) is free."

740

Genetics Flash Facts

Q0371:"What is the result of lack of disaccharidase activity of intestinal mucosa?"

741

Genetics Flash Facts

"Osmotically active disaccharides suck water out of mucosa causing osmotic diarrhea."

742

Genetics Flash Facts

Q0372:"Where is fructokinase found?"

743

Genetics Flash Facts

"Liver (processes most dietary fructose); kidney; small intestine"

744

Genetics Flash Facts

Q0373:"Why is fructose metabolism faster than glucose metabolism?"

745

Genetics Flash Facts

"Bypasses PFK; major regulatory step of glycolysis."

746

Genetics Flash Facts

Q0374:"What enzyme is missing in hereditary fructose intolerance?"

747

Genetics Flash Facts

"Aldolase B"

748

Genetics Flash Facts

Q0375:"What does aldose reductase do?"

749

Genetics Flash Facts

"Reduces glucose to sorbitol"

750

Genetics Flash Facts

Q0376:"Where is aldose reductase found?"

751

Genetics Flash Facts

"Lens; retina; Schwann cells; kidney; placenta; RBCs; and gonads"

752

Genetics Flash Facts

Q0377:"What does sorbitol dehydrogenase do?"

753

Genetics Flash Facts

"Oxidizes sorbitol to fructose."

754

Genetics Flash Facts

Q0378:"Where is sorbitol dehydrogenase found?"

755

Genetics Flash Facts

"Liver and gonads (ovaries; seminal vesicles; sperm)"

756

Genetics Flash Facts

Q0379:"Mechanism of sorbitol toxicity"

757

Genetics Flash Facts

"Extra glucose freely enters cells containing aldose reductase which converts it to sorbitol. Sorbitol may not pass through; and low or absent sorbitol dehydrogenase prevents it from being changed to fructose. Strong osmotic effects lead to swelling and damage."

758

Genetics Flash Facts

Q0380:"Chondroitin Sulfate: Where found?/Distinguishing characteristic from other GAGs"

759

Genetics Flash Facts

"Cartilage; tendons; ligaments; aorta. Most abundant GAG in body."

760

Genetics Flash Facts

Q0381:"Chondroitin Sulfate: Use/Mechanism"

761

Genetics Flash Facts

"Form proteoglycan aggregates. Cartilage: Bind collagen and hold fibers in a tight; strong network"

762

Genetics Flash Facts

Q0382:"Dermatan Sulfate: Where found?/Distinguishing characteristic from other GAGs"

763

Genetics Flash Facts

"Found in skin; blood vessels; and heart valves"

764

Genetics Flash Facts

Q0383:"Dermatan Sulfate: Use/Mechanism"

765

Genetics Flash Facts

766

Genetics Flash Facts

Q0384:"Keratan Sulfate: Where found?/Distinguishing characteristic from other GAGs"

767

Genetics Flash Facts

"Found in cartilage proteoglycan aggregates with chondroitin sulfate; and in cornea. Most heterogeneous GAG."

768

Genetics Flash Facts

Q0385:"Keratan Sulfate: Use/Mechanism"

769

Genetics Flash Facts

770

Genetics Flash Facts

Q0386:"Heparin: Where found?/Distinguishing characteristic from other GAGs"

771

Genetics Flash Facts

"Intracellular compound (unlike other GAGs). Found in mast cells of artery walls; especially in lungs; liver; and skin"

772

Genetics Flash Facts

Q0387:"Heparin: Use/Mechanism"

773

Genetics Flash Facts

"Anticoagulant"

774

Genetics Flash Facts

Q0388:"Heparan Sulfate: Where found?/Distinguishing characteristic from other GAGs"

775

Genetics Flash Facts

"Extracellular; unlike heparin. Found in basement membrane and as a ubiquitous component of cell surfaces."

776

Genetics Flash Facts

Q0389:"Heparan Sulfate: Use/Mechanism"

777

Genetics Flash Facts

778

Genetics Flash Facts

Q0390:"Hyaluronic Acid: Where found?/Distinguishing characteristic from other GAGs"

779

Genetics Flash Facts

"Found in synovial fluid of joints; vitreous humor f eye; umbilical cord; and loose connective tissue. Unlike other GAGs: Unsulfated; not covalently attached to protein; and only GAG not limited to animal tissue; but also found in bacteria."

780

Genetics Flash Facts

Q0391:"Hyaluronic Acid: Use/Mechanism"

781

Genetics Flash Facts

"Lubricant and shock absorber"

782

Genetics Flash Facts

Q0392:"Hunter's Syndrome vs Hurler's Syndrome: Enzyme deficiency"

783

Genetics Flash Facts

"Hunter's: Iduronate sulfatase; Hurler's: alpha-L-iduronidase"

784

Genetics Flash Facts

Q0393:"Hunter's Syndrome vs Hurler's Syndrome: Corneal clouding?"

785

Genetics Flash Facts

"Hunter's: No; Hurler's: Yes"

786

Genetics Flash Facts

Q0394:"Hunter's Syndrome vs Hurler's Syndrome: Mental retardation?"

787

Genetics Flash Facts

"Both (Hunter's ranges from mild to severe)"

788

Genetics Flash Facts

Q0395:"Hunter's Syndrome vs Hurler's Syndrome: Physical deformity?"

789

Genetics Flash Facts

"Hunter's: Mild to severe; Hurler's: Dwarfing; coarse facial features; (gargoylism)"

790

Genetics Flash Facts

Q0396:"Hunter's Syndrome vs Hurler's Syndrome: Which GAGs' degradation is affected?"

791

Genetics Flash Facts

"Both: Dermatan sulfate and Heparan sulfate"

792

Genetics Flash Facts

Q0397:"Hunter's Syndrome vs Hurler's Syndrome: Severity?"

793

Genetics Flash Facts

"Hunter's: Less Hurler's: More"

794

Genetics Flash Facts

Q0398:"Hunter's Syndrome vs Hurler's Syndrome: Inheritance?"

795

Genetics Flash Facts

"Hunter's: X-linked Recessive; Hurler's (and all other mucopolysaccharidoses): Autosomal recessive"

796

Genetics Flash Facts

Q0399:"Hunter's Syndrome vs Hurler's Syndrome: Aggressive behavior?"

797

Genetics Flash Facts

"Hunter's: Yes; Hurler's: No"

798

Genetics Flash Facts

Q0400:"Mnemonic for Hurler's syndrome: HURLERS. What does it stand for?"

799

Genetics Flash Facts

"H: Hepatosplenomegaly/Heparan and Dermatan sulfate; U:Ugly facies; R: aRteries filled with GAGs; L: Liduronidase; E: Eyes clouded; early death; R: Retardation/Respiratory obstruction; S: Short/stubby fingers"

800

Genetics Flash Facts

Q0401:"I-Cell disease: Pathophysiology"

801

Genetics Flash Facts

"Inability of cell to phosphorylate mannose residues on glycoproteins indicating that they are lysosome bound."

802

Genetics Flash Facts

Q0402:"I-Cell disease: Presentation"

803

Genetics Flash Facts

"Skeletal abnormalities; restricted joint movement; coarse facial features; severe psychomotor impairment; death by 8 years"

804

Genetics Flash Facts

Q0403:"Refsum Disease: Pathophysiology"

805

Genetics Flash Facts

"Inability to degrade phytanic acid; resulting in accumulation in plasma and tissues"

806

Genetics Flash Facts

Q0404:What is PKU?

807

Genetics Flash Facts

think smelly; retarded babies

808

Genetics Flash Facts

Q0405:What's one reason that binging on booze is a bad idea (aside from the ugly people you might sleep with;)?

809

Genetics Flash Facts

alcohol-> increased NADH -> decreased gluconeogenesis -> acidosis -> huge ER bill

810

Genetics Flash Facts

Q0406:What is Kwashiorkor?

811

Genetics Flash Facts

think Starvin' Marvin

812

Genetics Flash Facts

Q0407:What's another reason for not being an alky (besides the meetings)?

813

Genetics Flash Facts

pellegra- vitamin B3 deficit that gives you a rash; the shits; and altered mental status (even when sober)

814

Genetics Flash Facts

Q0408:Why is my urine black and what the Hell are these black dots on my eyes?!

815

Genetics Flash Facts

alkaptonuria

816

Genetics Flash Facts

Q0409:What is familial hypercholesterolemia?

817

Genetics Flash Facts

defective LDL receptors-> accelerated atherosclerosis & xanthomas

818

Genetics Flash Facts

Q0410:Name the fat soluble vitamins; Fat Ass!

819

Genetics Flash Facts

think Eating Donuts Adds Kilocalories!

820

Genetics Flash Facts

Q0411:Why could a person be deficient in fat soluble vitamins (esp considering that most of us have plenty of space to store these buggers!)?

821

Genetics Flash Facts

think malabsorption- sprue; CF; too much of Mom's mineral oil tx (a spoon a day keeps the enema away!)

822

Genetics Flash Facts

Q0412:What do B vitamin deficiencies result in (other than pernicious anemia)?

823

Genetics Flash Facts

dermatitis; glossitis; shits

824

Genetics Flash Facts

Q0413:What is beriberi? Hint: It's not a Voodoo curse.

825

Genetics Flash Facts

vitamin B1 deficiency; spell it ber1ber1 (1=i); B1 is required for TPP (generates pyruvate) & transketolase (HMP shunt)

826

Genetics Flash Facts

Q0414:What's the difference b/w wet & dry beriberi (other than that not so fresh feeling)?

827

Genetics Flash Facts

dry= polyneuritis; muscle wasting;wet=dilated cardiomyopathy; edema

828

Genetics Flash Facts

Q0415:What happens when you don't get your riboflavin (B2) on?

829

Genetics Flash Facts

it's important to have ribo-"flava" (not just b/c the chicks dig it) but FAD & FMN come from it; flava is not just a FAD but a Functionally Mandatory Necessity! not having flava causes angular stomatitis; cheliosis; & corneal vascularization (chicks don't dig this)

830

Genetics Flash Facts

Q0416:What the Hell is Pantothenate? Is that the crap in Pantene that will give my hair lusterous shine upon one washing?

831

Genetics Flash Facts

it's B5. it helps make CoA & fatty acid synthase (no wonder why i'm so damn sexy!); lack of B5 gives you dermatitis; enteritis; alopecia & adrenal insufficiency. com'on girls; no guy wants a flaky skinned; bald girlfriend who's adrenal glands don't put out; so take your vitamins!

832

Genetics Flash Facts

Q0417:Was I absent the day we learned about pyridoxine (B6) or do I merely have a B6 deficiency?

833

Genetics Flash Facts

I was probably in class the day they taught this but suffering from convulsions/hyperirritablity due to my B6 deficiency brought on by the stresses of med school. it turns out that B6 is needed for ALT; AST (transamination); decarboxylation; & heme synthesis.

834

Genetics Flash Facts

Q0418:Why is B12 important (for the umpteenth thousand time)?

835

Genetics Flash Facts

B12 (aka cobalamin)required for homocysteine methylation & methylmalonyl-CoA handling; decreased homocysteine-> decreased methionine-> messed up myelin & increased methylmalonyl-CoA-> increased methylmalonic acid-> messed up myelin; vegetarians eat your heart out (no really; b/c its full of the B12 you'll need to thwart off macrocytic; megaloblastic anemia); US causes are due to malabsorption (vs dietary insufficiency); think sprue; Crohn's; pernicious anemia; do a Schilling test
836

Genetics Flash Facts

Q0419:Why is folic acid so important? Does it justify all of the public service announcements?!

837

Genetics Flash Facts

geeze; it's only important if you want to synthesize DNA/RNA! why the concern??

838

Genetics Flash Facts

Q0420:What's biotin? Sounds like some tree hugging herbal medicine crap!

839

Genetics Flash Facts

biotin is needed for carboxylating (eg oxaloacetate; malonyoCoA; methylmalonyl-CoA); deficits lead to dermatitis & enteritis due to antibiotic use or ingesting raw eggs (Rocky must have had some mad IBS!)

840

Genetics Flash Facts

Q0421:Why do we need vitamin D?

841

Genetics Flash Facts

b/c we don't want rickets! there is such thing as too much of a good thing; though- too much vitamin D-> hypercalcemia; stupor (think sarcoidosis)

842

Genetics Flash Facts

Q0422:Why does Mom always shove vitamin C down your throat?

843

Genetics Flash Facts

no Mom wants a kid w/scurvy unless she's British. vitamin C cross links collagen for healing; facilitates iron absorption; & needed for dopamine synthesis (is this why the British are so static?)

844

Genetics Flash Facts

Q0423:What does vitamin E do?

845

Genetics Flash Facts

protects RBCs

846

Genetics Flash Facts

Q0424:What does vitamin K do?

847

Genetics Flash Facts

K is for koagulation (spelling proficiency wasn't a requirement for med school matriculation); intestinal coodies are required for its synthesis (this is why babies & pts on broad spectrum anti-biotics have increased PT & PTT; warfin is it's nemesis (warfin is at war w/ vitamin K)

848

Genetics Flash Facts

Q0425:Who are vitamin K's dependents?

849

Genetics Flash Facts

after much investigation; the family court ruled that vitamin K is responsible supporting its progenous clotting factors II; VII; IX; X; & protein C (until age 18 whereby his progeny will bleed to death)

850

Genetics Flash Facts

Q0426:What vitamin keeps your testicles plump and your hair flowing? (Guys; take notes!)

851

Genetics Flash Facts

zinc; aside from small balls and baldness; lack of zinc will cause delayed wound healing & predispose you to alcoholic cirrhosis!

852

Genetics Flash Facts

Q0427:Explain ethanol metabolism (and don't say you're too drunk to remember!)

853

Genetics Flash Facts

ethanol-> acetaldehyde-> acetate; requires alcohol dehydrogenase; acetaldehyde dehydrogenase; NAD+; NADH; NAD+ is limiting reagent

854

Genetics Flash Facts

Q0428:What gives you a hang-over? Hint: the answer isn't St. Ides Malt Liquor (although this is justifiable).

855

Genetics Flash Facts

saturation of acetylaldehyde dehydrogenase; this is how antabuse works

856

Genetics Flash Facts

Q0429:What is marasmus?

857

Genetics Flash Facts

tissue/muscle wasting due to energy malnutrition (compare w/Kwashiorkor)

858

Genetics Flash Facts

Q0430:What is a nucleosome?

859

Genetics Flash Facts

it's the DNA AND core histones; the "beads" on the string that; altogether; comprise what's called chromatin

860

Genetics Flash Facts

Q0431:What's so cool about H1 (histone 1)?

861

Genetics Flash Facts

it's the histone that ties all the nucleosomes together. H1 is a rebel; not part of the core b/c it's too cool for the core.

862

Genetics Flash Facts

Q0432:What is heterochromatin? Hint: chromatin does not have a sexual preference.

863

Genetics Flash Facts

this is the transcriptionally abstaining form of chromatin. it's very uptight (looped around histones). it's not promiscuous like that loose slut euchromatin.

864

Genetics Flash Facts

Q0433:Name the purines?

865

Genetics Flash Facts

think "pure As Gold"- A;G

866

Genetics Flash Facts

Q0434:What nucleotides bind to which?

867

Genetics Flash Facts

G-C (strongest); A-T

868

Genetics Flash Facts

Q0435:What goes into making a good purine?

869

Genetics Flash Facts

besides sugar and spice and everything nice; purines require glycine; aspartate; and glutamine

870

Genetics Flash Facts

Q0436:What's this difference b/w a transition mistake & a transversion mistake?

871

Genetics Flash Facts

transItion= Identical substitute;transVersion= conVersion b/w types

872

Genetics Flash Facts

Q0437:Why will mother nature never receive a Pulitzer Prize?

873

Genetics Flash Facts

b/c her writing is redundant and lacks punctuation. in her defense; her writing is also unambiguous & used universally

874

Genetics Flash Facts

Q0438:What's a silent mutation?

875

Genetics Flash Facts

it's more palatable than a missense or nonsense mutation. think "it is better to remain silent & be thought a fool then to speak & remove all doubt". silent mutations are often the result of a tRNA wobble at the 3rd position (damn it tRNA; switch to decaf!)

876

Genetics Flash Facts

Q0439:What is a missense mutation?

877

Genetics Flash Facts

it's replacing one aa with a similar aa. kind of like substituting a democrat with a republican.

878

Genetics Flash Facts

Q0440:What is a nonsense mutation?

879

Genetics Flash Facts

think stop the nonsense

880

Genetics Flash Facts

Q0441:What is a frame shift mutation?

881

Genetics Flash Facts

this is really bad. its when your tRNA starts reading The Oddessy but becomes impatient & settles for the Cliff Notes.

882

Genetics Flash Facts

Q0442:How are DNA topoisomerases & conditioner alike?

883

Genetics Flash Facts

they both remove those pesky tangles!

884

Genetics Flash Facts

Q0443:Why is DNA so codependent?

885

Genetics Flash Facts

DNA; like many of us; needs the motivation of another to function. primase is the muse of DNA. she (or he) makes the RNA primer on which DNA polymerase III can begin replication.

886

Genetics Flash Facts

Q0444:Does DNA polymerase ever look back?

887

Genetics Flash Facts

it may seem that DNA polymerase has no regrets and unaffectedly carries on in his 5'->3' direction. in truth; though; he is very aware of his past mistakes & corrects them in the 3'->5' direction with exonucleases.

888

Genetics Flash Facts

Q0445:What does DNA polymerase I have against RNA primer?

889

Genetics Flash Facts

she has always hated that tart; RNA primer. thus she uses her exonucleases to degrade RNA primer at any given chance & fills in the gaps w/DNA (she is much against interrelationships b/w RNA & DNA (she's a deoxyribose supremicist).

890

Genetics Flash Facts

Q0446:What keeps us from getting xeroderma pigmentosa?

891

Genetics Flash Facts

we have endonucleases that kick out messed up nucleotides.

892

Genetics Flash Facts

Q0447:Are all bases created equal?

893

Genetics Flash Facts

NO! we make a lot of messed up bases that glycolases remove by cutting the base out at a pyramimidic site.

894

Genetics Flash Facts

Q0448:What happens when there're irreconsilable differences b/w nucleotides?

895

Genetics Flash Facts

if counseling doesn't work; then your body may hire a mismatch repair attorney. people w/hereditary nonpolyposis colon cancer lack access to litigation.

896

Genetics Flash Facts

Q0449:What are the different kinds of RNA polymerases in eukaryotes?

897

Genetics Flash Facts

I=rRNA;II=mRNA;III=tRNA

898

Genetics Flash Facts

Q0450:Which RNA polymerase helps DNA open up?

899

Genetics Flash Facts

II=mRNA poly. her nemesis is her mother-in-law alphaamantin (she thwarts all efforts of mRNA poly by serving her death cap mushrooms at all family get togethers).

900

Genetics Flash Facts

Q0451:When does transcription begin?

901

Genetics Flash Facts

in AUG just like school. codes for methionine

902

Genetics Flash Facts

Q0452:When does transcription end (and don't say JUN)?

903

Genetics Flash Facts

think U Go Away; U Are Away; U Are Gone (geeze; mRNA can take a hint!).

904

Genetics Flash Facts

Q0453:What is a promoter?

905

Genetics Flash Facts

well DNA likes to be recognized for its contributions too. it takes a lot of work to make protein & this should be rewarded. DNA doesn't care about money; having a trust fund an all; DNA is rewarded for its efforts by being somewhat relieved of duty by RNA poly & other transcription factors. this only takes place after DNA has done most of the work & has reached a TATA or CAAT box.
906

Genetics Flash Facts

Q0454:What is an enhancer?

907

Genetics Flash Facts

area of DNA that attracts transcription factors that enhance gene expression.

908

Genetics Flash Facts

Q0455:What is an operator?

909

Genetics Flash Facts

area of DNA that attracts transcription factors that repress gene expression.

910

Genetics Flash Facts

Q0456:What's the difference b/w an intron & exon?

911

Genetics Flash Facts

exons are what contribute to your growth while introns are just interuptions along the way (kind of like your first boyfriends); introns remain in the nucleus.

912

Genetics Flash Facts

Q0457:How does hnRNA become whole in spite of all of her intron baggage?

913

Genetics Flash Facts

well differences are the "splice" of life; so hnRNA discovers new meaning by redefining herself via new experiences. she decides to move on w/the aide of her snRP friends; forming a spliceosome alliance. They help her release her intron baggage; thereby allowing her to persue healthy relationships w/exons. happy w/the exons; hnRNA agrees to seal the deal by capping & polyadenylation (huge commitment). she is now referred to as mRNA (she's old fashioned & conceeded to the name change).
914

Genetics Flash Facts

Q0458:What is Pellegra?

915

Genetics Flash Facts

think 3D: diarrhea; dermatitis; dementia; caused by niacin (B3) def or a tryptophan def; B3 comes from tryptophan.

916

Genetics Flash Facts

Q0459:Name the Vitamin D forms.

917

Genetics Flash Facts

D2= ergocalciferol (drink milk); D3= cholecalciferol (get some sun); 25-OH D3= storage; 1;25 (OH)2 D3= active form-> intestinal absorption of calcium & phosphate.

918

Genetics Flash Facts

Q0460:What is tRNA?

919

Genetics Flash Facts

transfer RNA is the pre-aminoacid. the amino acid is covalently attached to its 3' end.

920

Genetics Flash Facts

Q0461:What does tRNA look like?

921

Genetics Flash Facts

cloverleaf shape; CCA at 3'end.

922

Genetics Flash Facts

Q0462:what is aminoacyl-tRNA synthetase?

923

Genetics Flash Facts

it's the enzyme that makes the amino acid; there's 1 for every kind of amino acid; it is also a proof reader for its amino acid; it requires ATP to make a peptide bond but will read the transcript w/o it.

924

Genetics Flash Facts

Q0463:why does tRNA wobble?

925

Genetics Flash Facts

b/c it need only accurately read the first two nucleotides; then it can just insert whatever (hopefully a nucleotide that codes for the proper amino acid).

926

Genetics Flash Facts

Q0464:How is protein synthesis initiated?

927

Genetics Flash Facts

a 30S ribosome unit/initiator tRNA are hooked up w/the assistance of initiation factors

928

Genetics Flash Facts

Q0465:what happens during elongation?

929

Genetics Flash Facts

1. aminoacyl tRNA binds to A site 2. peptidyltransferase makes a peptide bond & transfers growing polypeptide chain to A site 3. ribosome cruises 3 nucleotides toward 3' RNA while moving peptidyl RNA to P site.

930

Genetics Flash Facts

Q0466:how is protein synthesis terminated?

931

Genetics Flash Facts

protein is released from ribosome.

932

Genetics Flash Facts

Q0467:what is the E site of the ribosome?

933

Genetics Flash Facts

where tRNA is held while exiting.

934

Genetics Flash Facts

Q0468:what is trimming?

935

Genetics Flash Facts

post-translational modification; removal of N or C terminal from a zymogen.

936

Genetics Flash Facts

Q0469:what is a covalent modification?

937

Genetics Flash Facts

post-translational phosphor/glycos/hydroxylation.

938

Genetics Flash Facts

Q0470:what does ubiquitin do?

939

Genetics Flash Facts

it is the scarlet letter to be worn by defective proteins.

940

Genetics Flash Facts

Q0471:how are cell cycles regulated?

941

Genetics Flash Facts

by checkpoints that control the cell phases; regulators include cyclins; cdks; & tumor suppressors.

942

Genetics Flash Facts

Q0472:what's included in mitosis?

943

Genetics Flash Facts

PMAT; this is the shortest phase.

944

Genetics Flash Facts

Q0473:what's included in interphase?

945

Genetics Flash Facts

G1; S ; G2

946

Genetics Flash Facts

Q0474:what's Go? Hint: it's not that lame movie.

947

Genetics Flash Facts

it's where permanent cells stay if you refrain from dropping acid. neurons; skeletal mm; RBCs; cardiac mm.

948

Genetics Flash Facts

Q0475:what are stable cells?

949

Genetics Flash Facts

although they are compliant w/their Prosac tx; they are also capable of entering G1 if stimulated; otherwise they'll stay in G1; hepatocytes; lymphocytes

950

Genetics Flash Facts

Q0476:what are labile cells?

951

Genetics Flash Facts

they never Go; they are always movin' rapidly; though; marrow; gut epithelium; hair

952

Genetics Flash Facts

Q0477:What takes place in the rough ER?

953

Genetics Flash Facts

synthesis of exported secretory proteins & N-linked oligosaccharide addition (eg goblet cells & plasma cells are rich w/rough ER).

954

Genetics Flash Facts

Q0478:What tkaes place in the smooth ER?

955

Genetics Flash Facts

site of steriod synthesis & detox.

956

Genetics Flash Facts

Q0479:What does the golgi do?

957

Genetics Flash Facts

processing & packaging of proteins & lipids from ER to plasma membrane; modifies N-oligosaccharides on asparagine; adds O-oligisaccharides to serine & threonine; adds mannose6-P; assembles & sulfates proteoglycans & tyrosine.

958

Genetics Flash Facts

Q0480:What is I-cell disease?

959

Genetics Flash Facts

when mannose-6-P addition by the golgi doesn't target lysosome proteins to lysosome; coarse face; clouded corneas; restricted jiont movement; high plasma lysosomal enzymes; fatal in childhood.

960

Genetics Flash Facts

Q0481:What is COPI?

961

Genetics Flash Facts

vesicular trafficking protein; golgi -> ER (retrograde).

962

Genetics Flash Facts

Q0482:What is COPII?

963

Genetics Flash Facts

vesicular trafficking protein; RER -> cis-golgi (anterograde).

964

Genetics Flash Facts

Q0483:What is clathrin?

965

Genetics Flash Facts

vesicular trafficking protein; trans-golgi -> lysosomes; plasma membrane -> endosomes.

966

Genetics Flash Facts

Q0484:What are microtubules?

967

Genetics Flash Facts

polymerized dimers of alpha/beta-tubulin; 2GTP bound/dimer; part of flagella; cilia; & spindles.

968

Genetics Flash Facts

Q0485:Name 5 drugs that act on microtubules?

969

Genetics Flash Facts

mebendazole; taxol; griseofulvin; vincristine; colchicine.

970

Genetics Flash Facts

Q0486:What is Chediak-Higashi syndrome?

971

Genetics Flash Facts

microtubule polymerization defect.

972

Genetics Flash Facts

Q0487:What are cilia made of?

973

Genetics Flash Facts

microtubule doublets (9 +2)linked by dynein ATPase.

974

Genetics Flash Facts

Q0488:What is Kartagener's syndrome?

975

Genetics Flash Facts

defective dynein resulting in defective cilia.

976

Genetics Flash Facts

Q0489:What is the plasma membrane made of?

977

Genetics Flash Facts

cholesterol; phospholipids; sphingolipids; glycolipids; proteins.

978

Genetics Flash Facts

Q0490:What is phosphatidylcholine(aka lecithin)?

979

Genetics Flash Facts

component of RBC membrane; myelin; bile; & surfactant; esterfies cholesterol (eg LCAT).

980

Genetics Flash Facts

Q0491:Name 2 drugs that inhibit the sodium pump?

981

Genetics Flash Facts

ouabain binds K+ site; cardiac glycosides inhibit Na+/K+ATPase.

982

Genetics Flash Facts

Q0492:Name the 4 types of collagen.

983

Genetics Flash Facts

type 1= bone; skin; tendon; cornea; type II= catilage; type III = reticulin; type VI= basement membrane.

984

Genetics Flash Facts

Q0493:What cells make collagen?

985

Genetics Flash Facts

fibroblasts.

986

Genetics Flash Facts

Q0494:How is collagen made?

987

Genetics Flash Facts

preprocollagen synthesized in RER-> hydroxylation (req Vitamin C)-> glycosylation in golgi & synthesis of procollagen; exocytosis; proteolysis into tropocollagen; crosslinking forms collagen fibrils.

988

Genetics Flash Facts

Q0495:What is Ehlers-Danlos syndrome?

989

Genetics Flash Facts

defective collagen synthesis; hyperextendible skin; bruising; hypermobile joints; assoc w/berry aneurysms; inherited.

990

Genetics Flash Facts

Q0496:What is osteogenesis imperfecta?

991

Genetics Flash Facts

abnormal type I collagen synthesis; autosomal dominant; fractures; blue sclerae; hearing loss; dental problems.

992

Genetics Flash Facts

Q0497:What is Marfan's syndrome?

993

Genetics Flash Facts

defective fibrillin.

994

Genetics Flash Facts

Q0498:What is elastin made of?

995

Genetics Flash Facts

non-hydroxylated proline & lysine; elastin= tropoelastin + fibrillin scaffolding; elastase allows relaxed form; alpha1antitrypsin inhibits elastase.

996

Genetics Flash Facts

Q0499:What happens in the mitochondria?

997

Genetics Flash Facts

beta-oxidation; acetyl-CoA production; Kreb's cycle.

998

Genetics Flash Facts

Q0500:What happens in the cytoplasm?

999

Genetics Flash Facts

glycolysis; fatty acid synthesis; TTP shunt; protein synthesis (RER); steroid synthesis (SER).

1000

Genetics Flash Facts

Q0501:What happens in both the mitochondria & the cytoplasm?

1001

Genetics Flash Facts

gluconeogenesis (hepatocytes); urea cycle; heme

1002

Genetics Flash Facts

Q0502:What is S-adenosyl-methionine (aka SAM)?

1003

Genetics Flash Facts

ATP + methionine; transfers methyl units; relies on B12.

1004

Genetics Flash Facts

Q0503:What is NADPH?

1005

Genetics Flash Facts

electron acceptor used in anabolic processes (eg steroid synthesis); respiratory burst; & P-450; comes from the TPP shunt.

1006

Genetics Flash Facts

Q0504:What is chronic granulomatous disease?

1007

Genetics Flash Facts

deficit of NADPH oxidase (makes bleach out of O2); neutrophils can't kill bugs

1008

Genetics Flash Facts

Q0505:What blood problem is commonly assoc. w/a glycolytic enzyme deficiency?

1009

Genetics Flash Facts

hemolytic anemia b/c RBC's rely on glycolysis for energy.

1010

Genetics Flash Facts

Q0506:What is the pyruvate dehydrogenous complex?

1011

Genetics Flash Facts

the enzyme + vitamins B1;2;3;5; + lipoic acid; makes pyruvate into acetyl-CoA; activated by excercise.

1012

Genetics Flash Facts

Q0507:What happens when you have a pyruvate dehydrogenase deficiency?

1013

Genetics Flash Facts

lactic acidosis; neurologic defects; tx w/ketogenic nutrients.

1014

Genetics Flash Facts

Q0508:How many ATP does 1 NADH make per turn?

1015

Genetics Flash Facts

1016

Genetics Flash Facts

Q0509:How many ATP does 1 FADH2 make per turn?

1017

Genetics Flash Facts

1018

Genetics Flash Facts

Q0510:Name 8 ox-phos poisons.

1019

Genetics Flash Facts

rotenone; CN-; antimysin A; CO (e- transport inhibitors); oligomycin (ATPase inhibitor); UCP; 2;4-DNP; aspirin (uncouplers).

1020

Genetics Flash Facts

Q0511:What happens when you have a glucose-6-P deficiency?

1021

Genetics Flash Facts

cannot generate G6PD that is required to reduce glutathionine that detoxifies the free rads & peroxides; RBC's are especially susceptible to oxidizing agents & will form hemoglobin precipitates (Heinz bodies); Blacks; X-linked recessive.

1022

Genetics Flash Facts

Q0512:What happens when you have an aldolase B deficiency?

1023

Genetics Flash Facts

recessive; fructose accumulation; inhibition of glycogenolysis & gluconeogenesis; hypoglycemia; jaundice; cirrhosis; vomiting.

1024

Genetics Flash Facts

Q0513:What is essential fructosuria?

1025

Genetics Flash Facts

deficient fructokinase; benign.

1026

Genetics Flash Facts

Q0514:What is galactosemia?

1027

Genetics Flash Facts

autosomal recessive; absence of galactose-1-P uridyltransferase; accumulation of toxins (eg galactitol); cataracts ; hepatosplenomegaly; mental retardation

1028

Genetics Flash Facts

Q0515:Name the essential aminoacids;Hint: PriVaTe TIM HALL.

1029

Genetics Flash Facts

phe; val; thr; trp; ile; met; his; arg; leu; lys

1030

Genetics Flash Facts

Q0516:What is hyperammonemia?

1031

Genetics Flash Facts

can be acquired (eg liver damage) or hereditary (eg ornithine transcarbamoylase def); excess NH4+ -> inhibition of Kreb's cycle; tremor; slurring; vomiting; cerebral edema; blurred vision; somnolence.

1032

Genetics Flash Facts

Q0517:Why do we need insulin?

1033

Genetics Flash Facts

allows entrance of glucose into adipose & muscle cells.

1034

Genetics Flash Facts

Q0518:What does insulin inhibit?

1035

Genetics Flash Facts

glucagon release by alpha pancreas cells.

1036

Genetics Flash Facts

Q0519:What does insulin do?

1037

Genetics Flash Facts

increases: glucose transport; glycogen synthesis/storage; TG synthesis/storage;Na+ retention; protein synthesis (muscles).

1038

Genetics Flash Facts

Q0520:What cells don't require glucose? Hint: BRICK L

1039

Genetics Flash Facts

brain; RBCs; intestine; cornea; kidney; liver.

1040

Genetics Flash Facts

Q0521:What role does adrenaline (aka epinephrine) play in glycogenensis & glycogenolysis?

1041

Genetics Flash Facts

glycogenesis = (-);glycogenolysis = (+)for both muscle & liver glycogen stores.

1042

Genetics Flash Facts

Q0522:What's the difference in glycogen response for muscle vs liver?

1043

Genetics Flash Facts

muscle metabolizes glucose fast; the liver acts to maintain blood sugar levels.

1044

Genetics Flash Facts

Q0523:How do you synthesize fat?

1045

Genetics Flash Facts

acetyl-CoA (mitochondria)-> citrate shuttle (matrix)-> acetylCoA + biotin (cytoplasm)-> malonyl CoA-> FA

1046

Genetics Flash Facts

Q0524:How do you burn fat?

1047

Genetics Flash Facts

FA + CoA-> acyl-CoA (cytoplasm)-> carnitine shuttle (matrix)-> acyl-CoA which is beta-oxidized into acetyl-CoA groups.

1048

Genetics Flash Facts

Q0525:What are ketone bodies?

1049

Genetics Flash Facts

FA + aminoacids in the liver -> acetoacetate + betahydroxybutyrate. these products can be used in leiu of glucose during fasting & diabetes for the brain & muscle; fruity breath.

1050

Genetics Flash Facts

Q0526:How do you make cholesterol?

1051

Genetics Flash Facts

HMG-CoA reductase is the rate limiting step; converts HMG-CoA to mevalonate; most cholesterol gets esterfied by LCAT.

1052

Genetics Flash Facts

Q0527:What drug inhibits cholesterol synthesis?

1053

Genetics Flash Facts

lovestatin inhibits HMG-CoA reductase.

1054

Genetics Flash Facts

Q0528:What are the essential fatty acids?

1055

Genetics Flash Facts

linoeic & linolenic acid. eicosanoids rely on these babies!

1056

Genetics Flash Facts

Q0529:What does pancreatic lipase do?

1057

Genetics Flash Facts

degrades TG in small intestine.

1058

Genetics Flash Facts

Q0530:What does lipoprotein lipase do?

1059

Genetics Flash Facts

degrades TG in chylomicrons & VLDLs.

1060

Genetics Flash Facts

Q0531:What does hepatic TG lipase do?

1061

Genetics Flash Facts

degrades TG in IDL.

1062

Genetics Flash Facts

Q0532:What does hormone sensitive lipase do?

1063

Genetics Flash Facts

degrades TG in adipocytes.

1064

Genetics Flash Facts

Q0533:What does LCAT do?

1065

Genetics Flash Facts

esterfies cholesterol.

1066

Genetics Flash Facts

Q0534:What does CEPT do?

1067

Genetics Flash Facts

transfers cholesterol esters to other lipoproteins.

1068

Genetics Flash Facts

Q0535:What does A1 do?

1069

Genetics Flash Facts

activates LCAT.

1070

Genetics Flash Facts

Q0536:What does B-100 do?

1071

Genetics Flash Facts

binds to LDL receptor & mediates VLDL secretion.

1072

Genetics Flash Facts

Q0537:What does CII do?

1073

Genetics Flash Facts

it's a cofactor for lipoprotein lipase.

1074

Genetics Flash Facts

Q0538:What does B-48 do?

1075

Genetics Flash Facts

mediates chylomicron secretion.

1076

Genetics Flash Facts

Q0539:What does E do?

1077

Genetics Flash Facts

mediates extra remnant uptake.

1078

Genetics Flash Facts

Q0540:What are lipopriteins made of?

1079

Genetics Flash Facts

cholesterol; TG; phospholipids.

1080

Genetics Flash Facts

Q0541:What do chylomicrons do?

1081

Genetics Flash Facts

takes TG from intestine to peripheral tissues & cholesterol to liver.

1082

Genetics Flash Facts

Q0542:Which lipoproteins do chylomicrons need?

1083

Genetics Flash Facts

B-48; A;C;E.

1084

Genetics Flash Facts

Q0543:What does VLDL do?

1085

Genetics Flash Facts

takes liver TGs to peripheral tissues.

1086

Genetics Flash Facts

Q0544:Which lipoproteins do VLDLs need?

1087

Genetics Flash Facts

B-100; C-II; E

1088

Genetics Flash Facts

Q0545:What does IDL do?

1089

Genetics Flash Facts

comes from VLDL degradation. takes TGs & cholesterol to liver to process into LDL.

1090

Genetics Flash Facts

Q0546:What lipoproteins does IDL need?

1091

Genetics Flash Facts

B-100; E.

1092

Genetics Flash Facts

Q0547:What does LDL do?

1093

Genetics Flash Facts

takes liver cholesterol to peripheral tissues; formed from VLDL via lipoprotein lipase in peripheral tissue.

1094

Genetics Flash Facts

Q0548:What lipoproteins does LDL need?

1095

Genetics Flash Facts

B-100.

1096

Genetics Flash Facts

Q0549:What does HDL do?

1097

Genetics Flash Facts

takes peripheral cholesterol to liver; also a storage for apoC & apoE for chylomicron & VLDL metabolism; secreted by liver & intestine.

1098

Genetics Flash Facts

Q0550:How is heme broken down?

1099

Genetics Flash Facts

heme-> biliverdin-> bilirubin -> liver -> bile.

1100

Genetics Flash Facts

Q0551:What is heme made of?

1101

Genetics Flash Facts

2 alpha + 2 beta polypetide subunits.

1102

Genetics Flash Facts

Q0552:Explain R vs T forms of heme.

1103

Genetics Flash Facts

T = low O2 affinity; R= high O2 affinity. T unloads!

1104

Genetics Flash Facts

Q0553:What favors T form over R form heme?

1105

Genetics Flash Facts

increased: Cl-; H+; CO2; 2;3-BPG; temperature favor O2 unloading; shifts curve right.

1106

Genetics Flash Facts

Q0554:What happens to CO2?

1107

Genetics Flash Facts

travels as bicarbonate in blood to lungs; binds to globin (not heme); favors T form of heme.

1108

Genetics Flash Facts

Q0555:What is methemoglobin?

1109

Genetics Flash Facts

this is oxidized hemoglobin (Fe3+) that prefers CN- over O2; push nitrates!

1110

Genetics Flash Facts

Q0556:What is carboxyhemoglobin?

1111

Genetics Flash Facts

hemoglobin has a fettish for CO.

1112

Genetics Flash Facts

Q0557:What are the four irreversible enzymes in glycolysis?

1113

Genetics Flash Facts

1. hexokinase/glucokinase;2. phosphofructokinase-1;3. pyruvate kinase;4. pyruvate dehydrogenase

1114

Genetics Flash Facts

Q0558:What is the rate-limiting step in glycolysis?

1115

Genetics Flash Facts

Conversion of Fructose-6-phosphate into Fructose-1;6 BP via phosphofructokinase 1

1116

Genetics Flash Facts

Q0559:What factor negatively inhibits hexokinase in glycolysis?

1117

Genetics Flash Facts

Glucose-6-Phosphate

1118

Genetics Flash Facts

Q0560:What factors (2) negatively inhibit PFK-1 in glycolysis?

1119

Genetics Flash Facts

1. ATP;2. citrate

1120

Genetics Flash Facts

Q0561:What factors (2) positivcely affect PFK-1 in glycolysis?

1121

Genetics Flash Facts

1. AMP;2. fructose-2;6-BP

1122

Genetics Flash Facts

Q0562:What factors (2) NEGATIVELY inhibit pyruvate kinase in glycolysis?

1123

Genetics Flash Facts

1. ATP;2. alanine

1124

Genetics Flash Facts

Q0563:What factor positively affects pyruvate kinase in glycolysis?

1125

Genetics Flash Facts

fructose-1;6 BP

1126

Genetics Flash Facts

Q0564:What factors (3) negatively inhibit pyruvate dehydrogenase in glycolysis?

1127

Genetics Flash Facts

1. ATP;2. NADH;3. acetyl-Coa

1128

Genetics Flash Facts

Q0565:What enzymes (2) CONVERT D-glucose into Glucose-6-phosphate in glycolysis?

1129

Genetics Flash Facts

1. hexokinase;2. gLucokinase (liver only)

1130

Genetics Flash Facts

Q0566:What enzyme CONVERTS PEP into pyruvate?

1131

Genetics Flash Facts

pyruvate kinase

1132

Genetics Flash Facts

Q0567:What enzyme CONVERTS pyruvate into AcetylCoA

1133

Genetics Flash Facts

pyruvate dehydrogenase

1134

Genetics Flash Facts

Q0568:What enzyme converts Fructose-6-P into Fructose1;6-BP?

1135

Genetics Flash Facts

Phosphofructokinase (rate-limiting step)

1136

Genetics Flash Facts

Q0569:What glycolytic enzyme deficiencies result in hemolytic anemia? (7)

1137

Genetics Flash Facts

1. hexokinase;2. glucose phosphate isomerase;3. aldolase;4. triosephosphate isomerase;5. phosphate glycerate kinase;6. enolase;7. pyruvate kinase

1138

Genetics Flash Facts

Q0570:Do RBCs possess mitochondria?

1139

Genetics Flash Facts

no: metabolize glucose anaerobically and thus depend solely on glycolysis

1140

Genetics Flash Facts

Q0571:Order of enzymes in a phagolysosome that destroy bacteria in oxygen-dependent respiratory burst?

1141

Genetics Flash Facts

1. NADPH OXIDASE;2. SOD;3. MYELOPEROXIDASE

1142

Genetics Flash Facts

Q0572:What enzyme converts O2 into its free radical?

1143

Genetics Flash Facts

NADPH OXIDASE; using NADPH

1144

Genetics Flash Facts

Q0573:What enzyme converts an O2 free radical into H2O2?

1145

Genetics Flash Facts

SOD

1146

Genetics Flash Facts

Q0574:What enzyme converts H2O2 into HOCl free radical

1147

Genetics Flash Facts

myeloperoxidase; using a chloride anion

1148

Genetics Flash Facts

Q0575:What enzyme converts GSH into GSSG?

1149

Genetics Flash Facts

catalase; via oxidation using H2O2

1150

Genetics Flash Facts

Q0576:What enzyme converts NADPH into NADP+ using GSSG?

1151

Genetics Flash Facts

glutathione reductase; resulting in GSH and NADP+

1152

Genetics Flash Facts

Q0577:What enzyme restores NADPH by converting G6P into 6-phosphogluconolactone?

1153

Genetics Flash Facts

Glucose-6-phosphate dehydrogenase

1154

Genetics Flash Facts

Q0578:A deficiency in what enzyme can cause chronic granulomatous disease?

1155

Genetics Flash Facts

NADPH OXIDASE DEFICIENCY --> CGD

1156

Genetics Flash Facts

Q0579:How many enzymes does the Pyruvate Dehydrogenase Complex contain?

1157

Genetics Flash Facts

3 enzymes

1158

Genetics Flash Facts

Q0580:What are the 5 co-factors for the Pyruvate Dehydrogenase Complex?

1159

Genetics Flash Facts

1. Pyrophosphate;2. FAD;3. NAD;4. CoA;5. Lipoic acid;(First 4 B vitamins plus lipoic acid)

1160

Genetics Flash Facts

Q0581:From what is PyroPhosphate derived in the PDH complex?

1161

Genetics Flash Facts

1. Vitamin B1 (thiamine);2. TPP

1162

Genetics Flash Facts

Q0582:From what is FAD derived in the PDH complex?

1163

Genetics Flash Facts

Vitamin B2 (riboflavin)

1164

Genetics Flash Facts

Q0583:From what is NAD derived in the PDH complex?

1165

Genetics Flash Facts

Vitamin B3 (niacin)

1166

Genetics Flash Facts

Q0584:From what is CoA derived in the PDH complex?

1167

Genetics Flash Facts

Vitamin B5 (pantothenate)

1168

Genetics Flash Facts

Q0585:What is the overall reaction in the PDH complex?

1169

Genetics Flash Facts

pyruvate + NAD+ + CoA --> acetyl-CoA + CO2 + NADH

1170

Genetics Flash Facts

Q0586:What three factors activate PDH during exercise?

1171

Genetics Flash Facts

1. increase in NAD+/NADH ratio;2. increase in ADP ratio;3. increase in Ca2+

1172

Genetics Flash Facts

Q0587:PDH complex is similar to what other complex by having the same cofactors; similar substrate; and similar action?

1173

Genetics Flash Facts

PDH is similar to alpha-KG DH complex

1174

Genetics Flash Facts

Q0588:What enzyme deficiency cause cause lactic acidosis?

1175

Genetics Flash Facts

PDH complex deficiency from a backup of pyruvate and alanine

1176

Genetics Flash Facts

Q0589:Alcoholism with a Vitamin B1 deficiency can also cause what (besides Wernicke-Korsakoffe)?

1177

Genetics Flash Facts

PDH deficiency (B1 is a co-factor)

1178

Genetics Flash Facts

Q0590:What are the findings in PDH complex deficiency?

1179

Genetics Flash Facts

neurologic deficits

1180

Genetics Flash Facts

Q0591:What is the treatment for PDH complex deficiency?

1181

Genetics Flash Facts

1. increase intake of KETOGENIC nutrients (high fat content);2. increase intake of LEUCINE and LYSINE

1182

Genetics Flash Facts

Q0592:What four items can pyruvate be converted into?

1183

Genetics Flash Facts

1. alanine;2. oxaloacetate;3. acetyl-Coa;4. lactate

1184

Genetics Flash Facts

Q0593:How can OAA be used after it is converted from pyruvate?

1185

Genetics Flash Facts

1. replenish TCA cycle;2. gluconeogenesis

1186

Genetics Flash Facts

Q0594:What enzyme converts pyruvate into alanine?

1187

Genetics Flash Facts

ALT

1188

Genetics Flash Facts

Q0595:What enzyme converts pyruvate into OAA?

1189

Genetics Flash Facts

pyruvate carboxylase (using CO2 + ATP)

1190

Genetics Flash Facts

Q0596:What enzyme converts pyruvate into Acetyl-CoA?

1191

Genetics Flash Facts

PDH (using NAD+ and releasing CO2)

1192

Genetics Flash Facts

Q0597:What enzyme converts pyruvate into lactate in the cytosol?

1193

Genetics Flash Facts

LDH (using NADH)

1194

Genetics Flash Facts

Q0598:What is the purpose of the Cori cycle?

1195

Genetics Flash Facts

Cori cycle transfers excess reducing equivalents from RBCs and muscle --> liver; allowing muscle to function anaerobically.

1196

Genetics Flash Facts

Q0599:In the TCA cycle; what are the products per one acetyl CoA?

1197

Genetics Flash Facts

1. 3 NADH;2. 1 FADH2;3. 2 CO2;4. 1 GTP

1198

Genetics Flash Facts

Q0600:How many ATP are produced from a single acetylCoa in the TCA cycle?

1199

Genetics Flash Facts

12 ATP/acetyl-Coa in the TCA cycle

1200

Genetics Flash Facts

Q0601:How many ATP are produced from a single glucose molecule in the TCA cycle?

1201

Genetics Flash Facts

24 ATP

1202

Genetics Flash Facts

Q0602:In the TCA cycle; what are the products per one glucose molecule?

1203

Genetics Flash Facts

1. 6 NADH;2. 2 FADH2;3. 4 CO2;4. 2 GTP

1204

Genetics Flash Facts

Q0603:What enzyme converts pyruvate into Acetyl-Coa?

1205

Genetics Flash Facts

PDH in glycolysis

1206

Genetics Flash Facts

Q0604:What three factors inhibit PDH?

1207

Genetics Flash Facts

1. ATP;2. Acetyl-Coa;3. NADH

1208

Genetics Flash Facts

Q0605:What factor inhibits Citrate synthase?

1209

Genetics Flash Facts

ATP

1210

Genetics Flash Facts

Q0606:wWhat enzyme converts Acetyl-CoA + OAA --> citrate?

1211

Genetics Flash Facts

citrate synthase in the TCA cycle

1212

Genetics Flash Facts

Q0607:What enzyme converts Isocitrate into alpha-KG?

1213

Genetics Flash Facts

Isocitrate dehydrogenase

1214

Genetics Flash Facts

Q0608:What 2 factors negatively inhibit Isocitrate DH?

1215

Genetics Flash Facts

1. ATP;2. NADH

1216

Genetics Flash Facts

Q0609:What factor positively affects Isocitrate DH?

1217

Genetics Flash Facts

ADP

1218

Genetics Flash Facts

Q0610:What two molecules are released in the conversion of Isocitrate into alpha-KG?

1219

Genetics Flash Facts

1. CO2;2. NADH

1220

Genetics Flash Facts

Q0611:what enzyme converts alpha-KG into Succinyl-CoA

1221

Genetics Flash Facts

alpha-KG DH

1222

Genetics Flash Facts

Q0612:What two molecules are released in the conversion of alpha-KG into Succinyl CoA?

1223

Genetics Flash Facts

1. CO2;2. NADH

1224

Genetics Flash Facts

Q0613:What 3 factors negatively inhibit alpha-KG?

1225

Genetics Flash Facts

1. Succinyl-CoA;2. NADH;3. ATP

1226

Genetics Flash Facts

Q0614:What 2 molecules are released in the conversion of Succinyl-CoA --> Succinate?

1227

Genetics Flash Facts

1. GTP;2. CoA

1228

Genetics Flash Facts

Q0615:What molecule is released in the conversion of Succinate --> Fumarate?

1229

Genetics Flash Facts

FADH2

1230

Genetics Flash Facts

Q0616:What molecule is released in the conversion of malate into OAA?

1231

Genetics Flash Facts

NADH

1232

Genetics Flash Facts

Q0617:1 NADH yields how many ATP?

1233

Genetics Flash Facts

3 ATP per 1 NADH

1234

Genetics Flash Facts

Q0618:1 FADH2 yields how many ATP?

1235

Genetics Flash Facts

2 ATP per 1 FADH2

1236

Genetics Flash Facts

Q0619:Name 4 electron transport inhibitors:

1237

Genetics Flash Facts

1. rotenone;2. antimycin A;3. CN-;4. CO

1238

Genetics Flash Facts

Q0620:What is the end result of electron transport inhibition?

1239

Genetics Flash Facts

1. decrease in proton gradient;2. block of ATP synthesis

1240

Genetics Flash Facts

Q0621:What is an example of a mitochondrial ATPase inhibitor?

1241

Genetics Flash Facts

Oligomycin

1242

Genetics Flash Facts

Q0622:The enzymes for gluconeogenesis are located in what organs only?

1243

Genetics Flash Facts

1. liver;2. kidney;3. intestinal epithelium

1244

Genetics Flash Facts

Q0623:Can muscle participate in gluconeogenesis?

1245

Genetics Flash Facts

NO

1246

Genetics Flash Facts

Q0624:The pentose phosphate pathway (HMP Shunt) produces [;] from G6P for nucleotide synthesis

1247

Genetics Flash Facts

ribose-5-P

1248

Genetics Flash Facts

Q0625:The Pentose Phosphate Pathway (HMP Shunt) produces [;] from [;] for FA and steroid biosynthesis and for maintaining reduced glutathione inside RBCs.

1249

Genetics Flash Facts

NADPH from NADP+

1250

Genetics Flash Facts

Q0626:All rxns in the HMP Shunt ocur in the [;].

1251

Genetics Flash Facts

cytoplasm

1252

Genetics Flash Facts

Q0627:[;] ATP is used or produced in the HMP Shunt.

1253

Genetics Flash Facts

NO

1254

Genetics Flash Facts

Q0628:What are the organs involved in the HMP Shunt (Pentose Phosphate Pathway)?

1255

Genetics Flash Facts

1. lactating mammary glands;2. liver;3. adrenal cortex;4. all sites of FA or steroid synthesis

1256

Genetics Flash Facts

Q0629:[;] is the rate-limiting enzyme in the HMP shunt

1257

Genetics Flash Facts

G6PD

1258

Genetics Flash Facts

Q0630:Hemolytic anemia is caused by a decrease in [;] in RBCs due to poor RBC defense against oxidizing agents.

1259

Genetics Flash Facts

NADPH

1260

Genetics Flash Facts

Q0631:What are the oxidizing agents involved in hemolytic anemia due to a G6PD deficiency?

1261

Genetics Flash Facts

1. fava beans;2. sulfonamide;3. primaquine;4. Anti-TB drugs

1262

Genetics Flash Facts

Q0632:What are Heinz bodies?

1263

Genetics Flash Facts

altered H.emoglobin precipitates within RBCs

1264

Genetics Flash Facts

Q0633:What is the inheritance pattern of G6PDH deficiency?

1265

Genetics Flash Facts

X-linked recessive

1266

Genetics Flash Facts

Q0634:Glucose-6-Phosphate DH converts G6P and NADP+ into what?

1267

Genetics Flash Facts

1. 6-PG;2. NADPH

1268

Genetics Flash Facts

Q0635:Glutathion reductase converts NADPH and oxidized GS-SG into what?

1269

Genetics Flash Facts

1. NADP+;2. 2 GSH (reduced)

1270

Genetics Flash Facts

Q0636:Hydrogen peroxide reacts with what to produc GS-SG (oxidized) + 2 H2O?

1271

Genetics Flash Facts

2 GSH (reduced)

1272

Genetics Flash Facts

Q0637:What enzyme is associated with Essential fructosuria?

1273

Genetics Flash Facts

Fructokinase

1274

Genetics Flash Facts

Q0638:What enzyme is associated with Fructose intolerance?

1275

Genetics Flash Facts

Aldolase B

1276

Genetics Flash Facts

Q0639:What is the end result of Fructose intolerance?

1277

Genetics Flash Facts

1. Fructose-1-phosphate accumulates;2. DECREASE in available phosphate;3. INHIBITION of GLYCOGENOLYSIS and GLUCONEOGENSIS

1278

Genetics Flash Facts

Q0640:What are the symptoms of hereditary aldolase B deficiency (Fructose intolerance)?

1279

Genetics Flash Facts

1. hypoglycemia;2. jaundice;3. cirrhosis;4. vomiting

1280

Genetics Flash Facts

Q0641:What is the treatment for Fructose intolerance?

1281

Genetics Flash Facts

1. DECREASE intake of fructose;2. DECREASE intake of sucrose (glucose + FRUCTOSE)

1282

Genetics Flash Facts

Q0642:Aldolase B converts Fructose-1-P into what 2 products?

1283

Genetics Flash Facts

1. DHAP;2. glyceraldehyde

1284

Genetics Flash Facts

Q0643:What enzyme converts Glyceraldehyde into Glyceraldehyde-3-P?

1285

Genetics Flash Facts

Triose kinase

1286

Genetics Flash Facts

Q0644:What enzyme converts Galactose-1-P to Glucose-1-P?

1287

Genetics Flash Facts

Galactose-1-phosphate uridyltransferase

1288

Genetics Flash Facts

Q0645:Galactosemia is caused by the absence of what enzyme?

1289

Genetics Flash Facts

Galactose-1-phosphate uridyl transferase

1290

Genetics Flash Facts

Q0646:What are the symptoms of galactosemia?

1291

Genetics Flash Facts

1. cataracts;2. hepatosplenomegaly;3. mental retardation

1292

Genetics Flash Facts

Q0647:What is the treatment of galactolsemia?

1293

Genetics Flash Facts

1. EXCLUDE galactose;2. EXCLUDE LACTOSE (galactose + glucose) from diet

1294

Genetics Flash Facts

Q0648:What causes the symptoms of galactosemia?

1295

Genetics Flash Facts

accumulation of toxic substances (galactitol)

1296

Genetics Flash Facts

Q0649:What enzyme converts UDP-galactose back into UDP-glucose?

1297

Genetics Flash Facts

4-epimerase

1298

Genetics Flash Facts

Q0650:What is the mnemonic for all essential amino acids?

1299

Genetics Flash Facts

P.riV.aT.e T.I.M. H.A.L.L.

1300

Genetics Flash Facts

Q0651:What are the glucogenic/ketogenic essential amino acids?

1301

Genetics Flash Facts

1. P.henylalanine;2. I.le;3. T.ryptophan;"Gluco/ketogenic is the P.I.T.s"

1302

Genetics Flash Facts

Q0652:What are the Glucogenic essential amino acids?

1303

Genetics Flash Facts

1. M.ethionine;2. T.hreonine;3. V.aline;4. A.rginine;5. H.istidine;"MTV? AH!"

1304

Genetics Flash Facts

Q0653:What essential amino acids are required during growth?

1305

Genetics Flash Facts

1. Arginine;2. Histidine;both increase GH

1306

Genetics Flash Facts

Q0654:What basic amino acid has no net charge at body pH?

1307

Genetics Flash Facts

Histidine

1308

Genetics Flash Facts

Q0655:What is the most basic AA?

1309

Genetics Flash Facts

Arginine

1310

Genetics Flash Facts

Q0656:What 2 amino acids are found in histones?

1311

Genetics Flash Facts

1. Arginine;2. Lysine;(both have an extra NH3 group)

1312

Genetics Flash Facts

Q0657:What is formed in the conversion of glutamate --> alpha-KG?

1313

Genetics Flash Facts

NADPH

1314

Genetics Flash Facts

Q0658:The Urea Cycle degrades [;] into amino groups.

1315

Genetics Flash Facts

amino acids

1316

Genetics Flash Facts

Q0659:What accounts for 90% of nitrogen in the urine?

1317

Genetics Flash Facts

Urea Cycle

1318

Genetics Flash Facts

Q0660:In what organ does the Urea Cycle occur?

1319

Genetics Flash Facts

liver

1320

Genetics Flash Facts

Q0661:In what organelle does carbamoyl phosphate incorporation occur?

1321

Genetics Flash Facts

mitochondria

1322

Genetics Flash Facts

Q0662:Where do the remaining steps of the Urea Cycle occur; besides the mitochondria?

1323

Genetics Flash Facts

cytosol

1324

Genetics Flash Facts

Q0663:What is released in the conversion of Arginine --> Ornithine?

1325

Genetics Flash Facts

Urea

1326

Genetics Flash Facts

Q0664:Tryptophan is used to form what 3 things?

1327

Genetics Flash Facts

1. Niacin;2. Serotonin;3. Melatonin

1328

Genetics Flash Facts

Q0665:Glycine is used to form what?

1329

Genetics Flash Facts

glycine --> porphyrin --> heme

1330

Genetics Flash Facts

Q0666:Arginine is used to form what?

1331

Genetics Flash Facts

1. Creatine;2. Urea;3. Nitric oxide

1332

Genetics Flash Facts

Q0667:In PKU; what constituents(2) are deficient?

1333

Genetics Flash Facts

1. phenylalanine hydroxylase;2. tetrahydrobiopterin cofactor

1334

Genetics Flash Facts

Q0668:What are the findings (5) in PKU?

1335

Genetics Flash Facts

1. MR;2. growth retardation;3. fair skin;4. eczema;5. musty body odor

1336

Genetics Flash Facts

Q0669:What is the R(x) for PKU?

1337

Genetics Flash Facts

1. DECREASE Phe;2. INCREASE Tyr in diet

1338

Genetics Flash Facts

Q0670:What are the 3 phenyllactones that accumulate in PKU?

1339

Genetics Flash Facts

1. phenylacetate;2. phenyllactate;3. phenylpyruvate

1340

Genetics Flash Facts

Q0671:What is the incidence of PKU?

1341

Genetics Flash Facts

1/10;000

1342

Genetics Flash Facts

Q0672:What enzyme converts Phe --> Tyr?

1343

Genetics Flash Facts

Phenylalanine hydroxylase

1344

Genetics Flash Facts

Q0673:What enzyme converts DHB --> THB and restores NADP+?

1345

Genetics Flash Facts

dihydropterin reductase

1346

Genetics Flash Facts

Q0674:What are the 2 possible causes of albinism?

1347

Genetics Flash Facts

1. deficiency of TYROSINASE (inability to synthesize malanin from tyrosine);2. Defective tyrosine transporters (DECREASE amounts of tyrosine and thus melanin)

1348

Genetics Flash Facts

Q0675:[;] can result from a lack of migration of neural crest cells

1349

Genetics Flash Facts

Albinism

1350

Genetics Flash Facts

Q0676:Full-term neonate of uneventful delivery becomes mentally retarded and hyperactive and has a musty odor. What is the D(x)?

1351

Genetics Flash Facts

PKU

1352

Genetics Flash Facts

Q0677:Stressed executive comes home from work; consumes 7 or 8 martinis in rapid succession before dinner; and becomes hypoglycemic. What is the mechanism?

1353

Genetics Flash Facts

NADH increase prevents gluconeogenesis by shunting pyruvate and OAA to lactate and malate.

1354

Genetics Flash Facts

Q0678:2-year-old girl has an increase in abdominal girth; failure to thrive; and skin and hair depigmentation. What is the D(x)?

1355

Genetics Flash Facts

Kwashiorkor

1356

Genetics Flash Facts

Q0679:Alcoholic develops a rash; diarrhea; and altered mental status. What is the vitamin deficiency?

1357

Genetics Flash Facts

Vitamin B3 (pellagra)

1358

Genetics Flash Facts

Q0680:51-year-old man has black spots in his sclera and has noted that his urine turns black uon standing. What is the D(x)?

1359

Genetics Flash Facts

Akaptonuria

1360

Genetics Flash Facts

Q0681:25-year-old male complains of severe chest pain and has xanthomas of his Achilles tendon. What is the disease; and where is the defect?

1361

Genetics Flash Facts

Familial hypercholesterolemia; LDL receptor.

1362

Genetics Flash Facts

Q0682:What is the definition of UNAMBIGUOUS when describing the genetic code?

1363

Genetics Flash Facts

each codon specifies only 1 AA

1364

Genetics Flash Facts

Q0683:What is the definition of Degenerate when describing the genetic code?

1365

Genetics Flash Facts

more than 1 codon may code for the same AA

1366

Genetics Flash Facts

Q0684:Why organism does NOT have a commaless; nonoverlapping genetic code?

1367

Genetics Flash Facts

viruses

1368

Genetics Flash Facts

Q0685:What are the EXCEPTIONS to a universal genetic code?

1369

Genetics Flash Facts

1. mitochondria;2. archaeobacteria;3. Mycoplasma;4. yeasts (some)

1370

Genetics Flash Facts

Q0686:[;] makes an RNA primer on which DNA polymerase III can initiate replication in PROKARYOTIC DNA replication.

1371

Genetics Flash Facts

Primase

1372

Genetics Flash Facts

Q0687:[;] degrades the RNA primer in PROKARYOTIC DNA replication.

1373

Genetics Flash Facts

DNA polymerase I

1374

Genetics Flash Facts

Q0688:DNA polymerase III has [;] synthesis and proofreads with [;] exonuclease

1375

Genetics Flash Facts

5'--> 3' synthesis; 3' --> 5' exonuclease (DNA polymerase III for PROKARYOTES)

1376

Genetics Flash Facts

Q0689:In PROKARYOTIC DNA replication; DNA polymerase I excises the RNA primer with a [;] exonuclease

1377

Genetics Flash Facts

5' --> 3'

1378

Genetics Flash Facts

Q0690:Where does replication begin for Eurkaryotic DNA polymerases?

1379

Genetics Flash Facts

consensus sequences of AT base pairs.

1380

Genetics Flash Facts

Q0691:What is the function of Eukaryotic DNA polymerase alpha?

1381

Genetics Flash Facts

synthesize RNA PRIMERS

1382

Genetics Flash Facts

Q0692:What is the function of Eukaryotic DNA polymerase beta?

1383

Genetics Flash Facts

LEADING-strand DNA

1384

Genetics Flash Facts

Q0693:What is the function of Eukaryotic DNA polymerase gamma?

1385

Genetics Flash Facts

LAGGING-strand DNA

1386

Genetics Flash Facts

Q0694:What is the function of Eukaryotic DNA polymerase delta?

1387

Genetics Flash Facts

MITOCHONDRIAL DNA

1388

Genetics Flash Facts

Q0695:What is the function of Eukaryotic DNA polymerase epsilon?

1389

Genetics Flash Facts

DNA repair

1390

Genetics Flash Facts

Q0696:X-rays can damage DNA; and a repair defect can cause what?

1391

Genetics Flash Facts

ataxia-telangiectasia

1392

Genetics Flash Facts

Q0697:Radiation can damage DNA; and a repair defect can cause what?

1393

Genetics Flash Facts

Bloom's syndrome

1394

Genetics Flash Facts

Q0698:Cross-linking agents can damage DNA; and a repair defect can cause what?

1395

Genetics Flash Facts

Fanconi's anemia

1396

Genetics Flash Facts

Q0699:DNA; RNA; and protein are all synthesized in what direction?

1397

Genetics Flash Facts

5' --> 3'

1398

Genetics Flash Facts

Q0700:AA's are linked [;] to [;]

1399

Genetics Flash Facts

N --> C

1400

Genetics Flash Facts

Q0701:What are the types of RNA polymerases for EUKARYOTES?

1401

Genetics Flash Facts

1. RNA POLYMERASE I;2. RNA POLYMERASE II;3. RNA POLYMERASE III

1402

Genetics Flash Facts

Q0702:Do RNA polymerases have proofreading function?

1403

Genetics Flash Facts

NO

1404

Genetics Flash Facts

Q0703:Alpha-amantin inhibits which RNA polymerase?

1405

Genetics Flash Facts

RNA polymerase II

1406

Genetics Flash Facts

Q0704:Where does RNA polymerase II bind?

1407

Genetics Flash Facts

promotor site of DNA

1408

Genetics Flash Facts

Q0705:In Prokaryotes; does RNA polymerase make all 3 kinds of RNA?

1409

Genetics Flash Facts

yes

1410

Genetics Flash Facts

Q0706:What binds to a PROMOTOR site?

1411

Genetics Flash Facts

1. RNA polymerase;2. transcription factors;(UPSTREAM FROM THE GENE)

1412

Genetics Flash Facts

Q0707:What binds to an ENHANCER site?

1413

Genetics Flash Facts

transcription factors

1414

Genetics Flash Facts

Q0708:What binds to an OPERATOR?

1415

Genetics Flash Facts

repressors (a repressive operator)

1416

Genetics Flash Facts

Q0709:Only [;] RNA is transported out of the nucleus

1417

Genetics Flash Facts

processed

1418

Genetics Flash Facts

Q0710:The [;] the Km; the higher the affinity.

1419

Genetics Flash Facts

lower

1420

Genetics Flash Facts

Q0711:The S phase of the cell cycle involves what?

1421

Genetics Flash Facts

Synthesis of DNA

1422

Genetics Flash Facts

Q0712:The G0 phase in the cell cycle is a quiescent [;] phase

1423

Genetics Flash Facts

G1 phase

1424

Genetics Flash Facts

Q0713:In the cell cycle; [;] is the shortest phase

1425

Genetics Flash Facts

mitosis

1426

Genetics Flash Facts

Q0714:Most cells are in what phase?

1427

Genetics Flash Facts

Go

1428

Genetics Flash Facts

Q0715:RER does what 2 things?f

1429

Genetics Flash Facts

1. synthesis of secretory (exported) proteins;2. N-linked oligosaccharide addition to many proteins

1430

Genetics Flash Facts

Q0716:What are the major functions of the Golgi?

1431

Genetics Flash Facts

1. MODIFIES N-oligosaccharides on asparagiNe;2. ADDS Ooligosaccharides to serine and threOnine;3. sulfation of sugars on proteoglycans;4. sulfation of Tyrosine;5. ADDITION of mannose-6-phosphate to lysosomal proteins; which targets the protein to the lysosome.

1432

Genetics Flash Facts

Q0717:What are the symptoms of I-cell disease?

1433

Genetics Flash Facts

1. coarse facial features;2. restricted joint movement

1434

Genetics Flash Facts

Q0718:What are the 3 key features of microtubules?

1435

Genetics Flash Facts

1. helical;2. alpha + beta tubulin dimers (2 GTP bound each);3. forms flagella; cilia; and mitotic spindles

1436

Genetics Flash Facts

Q0719:What are 5 drugs that act on microtubules?

1437

Genetics Flash Facts

1. Mebendazole/thiabendazole;2. Taxol;3. Griseofulvin;4. Vincristine/vinblastine;5. Colchicine

1438

Genetics Flash Facts

Q0720:Chediak-Higashi syndrome is due to a microtubule polymerization defect; resulting in a DECREASE in [;]

1439

Genetics Flash Facts

phagocytosis

1440

Genetics Flash Facts

Q0721:What are the 2 key features of Cilia?

1441

Genetics Flash Facts

1. 9 + 2 arrangment of microtubules (9 doublets);2. doublets linked by Dynein; an ATPase

1442

Genetics Flash Facts

Q0722:Kartagener's syndrome is due to a dynein arm defect; resulting in [;] cilia.

1443

Genetics Flash Facts

immotile cilia

1444

Genetics Flash Facts

Q0723:What 2 components in the plasma cell membrane can INCREASE the melting temperature?

1445

Genetics Flash Facts

1. cholestrol;2. long saturated fatty acids

1446

Genetics Flash Facts

Q0724:Name 5 functions of Phosphatidylcholine:

1447

Genetics Flash Facts

1. RBCs;2. myelin;3. bile;4. surfactant (DiPalmitoyl Phosphatidyl Choline);5. esterification of cholesterol (LCAT)

1448

Genetics Flash Facts

Q0725:Ouabain INHIBITS the Na+/K+ pump by binding to what?

1449

Genetics Flash Facts

K+ site

1450

Genetics Flash Facts

Q0726:What is the most abundant protein in the human body?

1451

Genetics Flash Facts

collagen

1452

Genetics Flash Facts

Q0727:What are the components of Type I collagen?

1453

Genetics Flash Facts

1. B.one;2. tendon;3. skin;4. dentin;5. fascia;6. cornea;7. latewound repair

1454

Genetics Flash Facts

Q0728:What are the components of Type II collagen?

1455

Genetics Flash Facts

1. C.artilage ("Type II: carTWOlage"); hyaline too;2. vitreous body;3. nucleus pulposus

1456

Genetics Flash Facts

Q0729:What are the components of Type III collagen?

1457

Genetics Flash Facts

1. R.eticulin;2. skin;3. blood vessels;4. uterus;5. fetal tissue;6. granulation tissue

1458

Genetics Flash Facts

Q0730:What are the components of Type IV collagen?

1459

Genetics Flash Facts

1. B.asement membrane;2. basal lamina "Type IV: under the FLOOR (basement membrane)"

1460

Genetics Flash Facts

Q0731:What is the component of Type X collagen

1461

Genetics Flash Facts

epiphyseal plate

1462

Genetics Flash Facts

Q0732:What is the mnemonic for the first four collagen types (I-IV)?

1463

Genetics Flash Facts

"B.e C.ool; R.ead B.ooks"

1464

Genetics Flash Facts

Q0733:What is the 1st step in collagen synthesis INSIDE fibroblasts?

1465

Genetics Flash Facts

collagen alpha chains (PREPROCOLLAGEN) translated on RER--usually Gly-X-Y polypeptide (X and Y are proline; hydroxyproline; or hydroxylysine)

1466

Genetics Flash Facts

Q0734:What is the 2nd step in collagen synthesis INSIDE fibroblasts?

1467

Genetics Flash Facts

ER--> hydroxylation of specific proline and lysine residues (requires vitamin C)

1468

Genetics Flash Facts

Q0735:What is the 3rd step in collagen synthesis INSIDE fibroblasts?

1469

Genetics Flash Facts

Golgi --> glycosylation of pro-alpha-chain lysine residues and formation of PROCOLLAGEN(triple helix of 3 collagen alpha chains)

1470

Genetics Flash Facts

Q0736:What is the 4th step in collagen synthesis INSIDE fibroblasts?

1471

Genetics Flash Facts

PROCOLLAGEN molecules are exocytosed into the extracellular space

1472

Genetics Flash Facts

Q0737:What is the 5th step in collagen synthesis OUTSIDE fibroblasts?

1473

Genetics Flash Facts

PROCOLLAGEN peptidases cleave terminal regionals of PROCOLLAGEN; transforming PROCOLLAGEN into insoluble TROPOCOLLAGEN

1474

Genetics Flash Facts

Q0738:What is the 6th and last step in colagen synthesis OUTSIDE fibroblasts?

1475

Genetics Flash Facts

staggered TROPOCOLLAGEN molecules are reinforced by covalent lysine-hydroxylysine cross-linkage (by lysyl oxidase) to make COLLAGEN FIBRILS

1476

Genetics Flash Facts

Q0739:What are the 8 major points concerning Ehlers-Danlos syndrome?

1477

Genetics Flash Facts

1. faulty collagen synthesis;2. hyper-extensible skin;3. easy bleeding/brusing;4. hypermobile joints;5. berry aneurysms;6. type III collagen (reticulin: blood vessels; skin);7. mitral valve prolapse;8. CAN'T make COLLAGEN FIBRILS from TROPOCOLLAGEN!

1478

Genetics Flash Facts

Q0740:What are the 9 major points concerning OSTEOGENESIS IMPERFECTA?

1479

Genetics Flash Facts

1. AUTOSOMAL DOMINANT (UNIQUE);2. faulty collagen synthesis;3. brittle bone disease;4. translucency of CT over choroid (blue sclerae);5. hearing loss: abnormal middle ear bones;6. lack of dentition;7. Type II OI: fatal;8. Indicence of OI: 1/10;000;9. CAN'T make PROCOLLAGEN from PREPROCOLLAGEN
1480

Genetics Flash Facts

Q0741:What three metabolic processes occur in the mitochondria?

1481

Genetics Flash Facts

1. B.eta-oxidation;2. A.cetyl-CoA production;3. K.rebs cycle

1482

Genetics Flash Facts

Q0742:What five metabolic processes occur in the cytoplasm?

1483

Genetics Flash Facts

1. glycolysis;2. FA synthesis;3. protein synthesis;4. steroid synthesis;5. HMP shunt

1484

Genetics Flash Facts

Q0743:What 2 metabolic processes occur in BOTH the mitochondria and cytoplasm?

1485

Genetics Flash Facts

1. H.eme synthesis;2. U.rea cycle;3. G.luconeogenesis;"H.U.G. both the mitochondria and cytoplasm for their metabolism."

1486

Genetics Flash Facts

Q0744:A deficiency of what enzyme causes MILD galactosemia?

1487

Genetics Flash Facts

Galactokinase

1488

Genetics Flash Facts

Q0745:A deficiency of what enzyme causes SEVERE galactosemia?

1489

Genetics Flash Facts

Galactose-1-phosphate uridyltransferase

1490

Genetics Flash Facts

Q0746:Galactose-1-phosphate --> Glucose-1-phosphate by what enzyme?

1491

Genetics Flash Facts

Galactose-1-phosphate uridyltransferase

1492

Genetics Flash Facts

Q0747:A deficiency of what enzyme causes Von Gierke's disease?

1493

Genetics Flash Facts

Glucose-6-phosphatase

1494

Genetics Flash Facts

Q0748:Glucose-6-phosphate --> 6-phosphogluconolactone by what enzyme?

1495

Genetics Flash Facts

Glucose-6-phosphate dehydrogenase (G6PD)

1496

Genetics Flash Facts

Q0749:Hemolytic anemia is caused by a deficiency of what enzyme?

1497

Genetics Flash Facts

G6PD

1498

Genetics Flash Facts

Q0750:Ribulose-5-phosphate --> fructose-6-phosphate by what enzyme?

1499

Genetics Flash Facts

transketolase

1500

Genetics Flash Facts

Q0751:A deficiency of what enzyme causes ESSENTIAL fructosuria?

1501

Genetics Flash Facts

fructokinase

1502

Genetics Flash Facts

Q0752:A deficiency of what enzyme causes fructose INTOLERANCE?

1503

Genetics Flash Facts

Aldolase B

1504

Genetics Flash Facts

Q0753:F1P --> DHAP + Glyceraldehyde. What enzyme?

1505

Genetics Flash Facts

aldolase B

1506

Genetics Flash Facts

Q0754:PEP --> pyruvate. What enzyme?

1507

Genetics Flash Facts

pyruvate kinase

1508

Genetics Flash Facts

Q0755:Pyruvate --> Acetyl-CoA. What enzyme?

1509

Genetics Flash Facts

pyruvate dehydrogenase

1510

Genetics Flash Facts

Q0756:Acetyl-CoA --> Malonyl-CoA. What cofactor?

1511

Genetics Flash Facts

biotin to tranfer CO2

1512

Genetics Flash Facts

Q0757:HMG CoA --> mevalonate. What enzyme?

1513

Genetics Flash Facts

HMG-CoA reductase

1514

Genetics Flash Facts

Q0758:pyruvate --> OAA. What enzyme?

1515

Genetics Flash Facts

pyruvate carboxylase

1516

Genetics Flash Facts

Q0759:OAA --> PEP. What enzyme?

1517

Genetics Flash Facts

PEP carboxykinase

1518

Genetics Flash Facts

Q0760:Acetyl-CoA + OAA --> citrate. What enzyme?

1519

Genetics Flash Facts

citrate synthase

1520

Genetics Flash Facts

Q0761:alpha-KG --> Succinyl-CoA. What enzyme?

1521

Genetics Flash Facts

alpha-ketoglutarate dehydrogenase

1522

Genetics Flash Facts

Q0762:Ornithine + Carbamoyl phosphate --> citrulline. What enzyme?

1523

Genetics Flash Facts

ornithine transcarbamylase

1524

Genetics Flash Facts

Q0763:Aerobic metabolism of glucose --> 38 ATP via [;]

1525

Genetics Flash Facts

malate shuttle

1526

Genetics Flash Facts

Q0764:Aerobic metabolism of glucose --> 36 ATP via [;]

1527

Genetics Flash Facts

G3P shuttle

1528

Genetics Flash Facts

Q0765:What are 2 activated ACYL carriers?

1529

Genetics Flash Facts

1. coenzyme A;2. lipoamide

1530

Genetics Flash Facts

Q0766:What is an activated CO2 carrier?

1531

Genetics Flash Facts

biotin

1532

Genetics Flash Facts

Q0767:What is an activated 1-carbon unit carrier?

1533

Genetics Flash Facts

tetrahydrofolate

1534

Genetics Flash Facts

Q0768:What is an activated carrier of aldehydes?

1535

Genetics Flash Facts

TPP

1536

Genetics Flash Facts

Q0769:What is an activated carrier of choline?

1537

Genetics Flash Facts

CDP-choline

1538

Genetics Flash Facts

Q0770:ATP + methionine --> SAM. using what cofactor?

1539

Genetics Flash Facts

B12

1540

Genetics Flash Facts

Q0771:NADPH used in 3 processes:

1541

Genetics Flash Facts

1. anabolic processes;2. respiratory burst;3. p-450

1542

Genetics Flash Facts

Q0772:What enzymes involve NADPH in respiratory burst?

1543

Genetics Flash Facts

1. NADPH oxidase;2. glutathione reductase;3. Glucose-6Phosphate dehydrogenase

1544

Genetics Flash Facts

Q0773:Glucose -> G6P; an irreversible regulatory step in glycolysis is catalyzed by which enyzme?

1545

Genetics Flash Facts

glucokinase/hexokinase

1546

Genetics Flash Facts

Q0774:Fructose 6-phosphate -> F1;6BP; an irreversible regulatory step in glycolysis is catalyzed by which enyzme?

1547

Genetics Flash Facts

Phosphofructokinase (PFK)

1548

Genetics Flash Facts

Q0775:Phosphoenolpyruvate (PEP)->pyruvate; an irreversible regulatory step in glycolysis is catalyzed by which enyzme?

1549

Genetics Flash Facts

pyruvate kinase

1550

Genetics Flash Facts

Q0776:Acetyl CoA --> Citrate; an irreversible regulatory step in the TCA cycle is catalyzed by which enyzme?

1551

Genetics Flash Facts

citrate synthase

1552

Genetics Flash Facts

Q0777:a-ketoglutarate -> succinate; an irreversible regulatory step in the TCA cycle is catalyzed by which enyzme?

1553

Genetics Flash Facts

a-ketoglutarate dehydrogenase

1554

Genetics Flash Facts

Q0778:How many ATP are produced from one glucose molecule in anaerobic glycolysis?

1555

Genetics Flash Facts

2 ATP produced

1556

Genetics Flash Facts

Q0779:How many ATP are produced from one glucose molecule in aerobic metabolism?

1557

Genetics Flash Facts

38ATP from malate shuttle;36 ATP from Glucose 3 phosphate shuttle

1558

Genetics Flash Facts

Q0780:What is the product of the hexose monophospate shunt (HMP)?

1559

Genetics Flash Facts

NADPH used in anabolic processes (steroid and fatty acid synthesis) and ribose 5-phosphate for nucleotide synthesis

1560

Genetics Flash Facts

Q0781:What molecules are universal electron acceptors?

1561

Genetics Flash Facts

Nicotinamides (NAD; NADP);Flavin nucleotides (FAD)

1562

Genetics Flash Facts

Q0782:Where is hexokinase found?

1563

Genetics Flash Facts

ubiquitous

1564

Genetics Flash Facts

Q0783:What are the kinetic characteristics of hexokinase in relation to glucose?

1565

Genetics Flash Facts

high affinity; low capacity

1566

Genetics Flash Facts

Q0784:What product inhibits hexokinase?

1567

Genetics Flash Facts

Glucose 6-Phosphate

1568

Genetics Flash Facts

Q0785:Where does one find glucokinase?

1569

Genetics Flash Facts

in the liver

1570

Genetics Flash Facts

Q0786:What are the kinetic characteristics of glucokinase in relation to glucose?

1571

Genetics Flash Facts

low affinity; high capacity

1572

Genetics Flash Facts

Q0787:Where does glycolysis occur in the cell?

1573

Genetics Flash Facts

Cytoplasm

1574

Genetics Flash Facts

Q0788:Which enzyme is activated in the fasting state converting fructose-6-phosphate to fructose 2;6bisphosphate?

1575

Genetics Flash Facts

PFK2

1576

Genetics Flash Facts

Q0789:Which enzyme is activated in the fed state converting fructose-2;6-bisphosphatase to fructose 6-phosphatate?

1577

Genetics Flash Facts

fructose bisphosphatate-2

1578

Genetics Flash Facts

Q0790:What molecule is the most potent activator of phosphofructokinase; converting fructose-6-phosphate to fructose 1;6-phosphate

1579

Genetics Flash Facts

Fructose 2;6 BP

1580

Genetics Flash Facts

Q0791:A deficiency of which glycolytic enzyme is associated with hemolytic anemia?

1581

Genetics Flash Facts

pyruvate kinase;G6PDH is not part of glycolysis; it is part of the HMP shunt

1582

Genetics Flash Facts

Q0792:What are the only two purely ketogenic amino acids?

1583

Genetics Flash Facts

Lysine and Leucine

1584

Genetics Flash Facts

Q0793:What factors increase the activation of the pyruvate dehydrogenase complex?

1585

Genetics Flash Facts

Low ATP/ADP ratio (exercise);high NAD/NADH ratio;high IC [Ca]

1586

Genetics Flash Facts

Q0794:How many ATP equivalents are needed to generate glucose from pyruvate?

1587

Genetics Flash Facts

6 ATP equivalents

1588

Genetics Flash Facts

Q0795:What are the 4 fates for pyruvate at the end of glycolysis?

1589

Genetics Flash Facts

1. Alanine;2. oxaloacetate;3. Acetyl CoA;4. Lactate

1590

Genetics Flash Facts

Q0796:What is the function of the Cori cycle?

1591

Genetics Flash Facts

transfers excess reducing equivalents from RBCs and muscle to the liver; shifts the metabolic burden to the liver

1592

Genetics Flash Facts

Q0797:What are the steps in the TCA cycle?

1593

Genetics Flash Facts

Citrate > isocitrate > a-ketoglutarate > succinyl CoA > succinate > fumate > malate > OAA

1594

Genetics Flash Facts

Q0798:What cofactors are required for the a-ketoglutarate dehydrogenase complex?

1595

Genetics Flash Facts

B1; B2; B3; B5; lipoic acid

1596

Genetics Flash Facts

Q0799:Which complexes bring protons across the inner mitochondrial membrane?

1597

Genetics Flash Facts

Complexes I; III; IV

1598

Genetics Flash Facts

Q0800:In oxidative phosphorylation; how many ATP are produced from 1 NADH?

1599

Genetics Flash Facts

3 ATP

1600

Genetics Flash Facts

Q0801:In oxidative phosphorylation; how many ATP are produced from 1 FADH2?

1601

Genetics Flash Facts

2 ATP

1602

Genetics Flash Facts

Q0802:What are the three categories of oxidative phosphorylation poisons?

1603

Genetics Flash Facts

1. e- transport inhibitors;2. ATPase inhibitors;3. Uncoupling agents

1604

Genetics Flash Facts

Q0803:What are the 4 irreversible enzymes of gluconeogenesis and where are they located?

1605

Genetics Flash Facts

1. Pyruvate carboxylase (mitochondria);2. PEP carboxykinase (PEPCK; cytosol);3. Fructose 1;6-bisphosphatase (cytosol);4. Glucose 6-phophotase (ER)

1606

Genetics Flash Facts

Q0804:What tissues contain the irreversible enzymes of gluconeogenesis?

1607

Genetics Flash Facts

liver; kidney; intestinal epithelium;muscle does not contain G6Ptase and cannot participate in gluconeogenesis

1608

Genetics Flash Facts

Q0805:Deficiency of key gluconeogenic enzymes causes what symptoms?

1609

Genetics Flash Facts

hypoglycemia

1610

Genetics Flash Facts

Q0806:The HMP shunt occurs in what parts of the body?

1611

Genetics Flash Facts

lactating mammary glands; liver; adrenal cortex

1612

Genetics Flash Facts

Q0807:In what part of the cell does the HMP shunt occur?

1613

Genetics Flash Facts

cytoplasm

1614

Genetics Flash Facts

Q0808:What enzyme is required for the irreversible reaction of the HMP shunt producing NADPH?

1615

Genetics Flash Facts

Glucose-6-phosphate dehydrogenase

1616

Genetics Flash Facts

Q0809:What is the product of the reversible reaction of HMP shunt?

1617

Genetics Flash Facts

Ribose-5-phosphate (for nucleotide synthesis) and Glyceraldehyde 3-phosphate; fructose 6phosphate(intermediate of gyloslysis)

1618

Genetics Flash Facts

Q0810:GLUT2 receptors are found in which cells?

1619

Genetics Flash Facts

b-cells in the pancreas; Liver; kidney

1620

Genetics Flash Facts

Q0811:GLUT4 receptors are found in which cells?

1621

Genetics Flash Facts

Muscles and Fat

1622

Genetics Flash Facts

Q0812:What is the general function of insulin?

1623

Genetics Flash Facts

-moves glucose into cells;-inhibits glucagon secretion from acells in pancreas

1624

Genetics Flash Facts

Q0813:Which organs do not require insulin for glucose uptake?

1625

Genetics Flash Facts

Brain;RBCs;Intestine;Cornea;Kidney;Liver

1626

Genetics Flash Facts

Q0814:What are the anabolic effects of insulin?

1627

Genetics Flash Facts

increased glucose transport;increased glycogen synthesis and storage;increased triglyceride synthesis and storage;increased Na retention;increased protein synthesis

1628

Genetics Flash Facts

Q0815:What is the role of glycogen in skeletal muscle?

1629

Genetics Flash Facts

rapidly metabolize glucose during exercise

1630

Genetics Flash Facts

Q0816:What is the role of glycogen in hepatocytes?

1631

Genetics Flash Facts

storage depot to maintain blood sugar at appropriate levels.

1632

Genetics Flash Facts

Q0817:What are the main reactions of glycogenesis/degradation?

1633

Genetics Flash Facts

G6P > G1P > UDP-glucose > branched version > limit dextran > debranched glycogen

1634

Genetics Flash Facts

Q0818:What are the 4 glycogen storage diseases?

1635

Genetics Flash Facts

Von Gierke's Dz (Type I);Pompe's Dz (Type II);Cori's Dz (Type III);McArdle's Dz (Type V)

1636

Genetics Flash Facts

Q0819:What are the findings of Von Gierke's Dz?

1637

Genetics Flash Facts

severe fasting hypoglycemia; high glycogen in the liver; increased blood lactate; hepatomegaly

1638

Genetics Flash Facts

Q0820:What is the deficient enzyme in Von Gierke's Dz?

1639

Genetics Flash Facts

Glucose-6-phosphate

1640

Genetics Flash Facts

Q0821:What are the findings of Pompe's dz?

1641

Genetics Flash Facts

cardiomegaly and systemic findings leading to early death

1642

Genetics Flash Facts

Q0822:What is the deficient enzyme in Pompe's Dz?

1643

Genetics Flash Facts

Lysosomal a-1;4-glucosidase (acid maltase)

1644

Genetics Flash Facts

Q0823:What are the findings of Cori's disease?

1645

Genetics Flash Facts

Milder form of Van Gierke's (Type I) with normal blood lactate levels

1646

Genetics Flash Facts

Q0824:What is the deficient enzyme in Cori's Dz?

1647

Genetics Flash Facts

debranching enzyme (a-1;6-glucosidase

1648

Genetics Flash Facts

Q0825:What are the findings of McArdle's dz (Type V)?

1649

Genetics Flash Facts

increased glycogen in muscle but cannot break it down -> painful cramps and myoglobinuria with strenuous exercise

1650

Genetics Flash Facts

Q0826:What is the deficient enzyme in McArdle's Dz?

1651

Genetics Flash Facts

skeletal muscle phosphorylase

1652

Genetics Flash Facts

Q0827:A full-term neonate of uneventful delivery becomes mentally retarded and hyperactive and has a musty odor. What is the dx?

1653

Genetics Flash Facts

PKU

1654

Genetics Flash Facts

Q0828:A stressed executive comes home from work; consumes 7 or 8 martinis in rapid succession before dinner; and becomes hypoglycemic. What is the mechanism?

1655

Genetics Flash Facts

Increase in NADH prevents gluconeogenesis by shunting pyruvate and oxaloacetate to lactate and malate

1656

Genetics Flash Facts

Q0829:A 2 year-old girl has an increase in abdominal girth; failure to thrive; and skin and hair depigmentation. What is the dx?

1657

Genetics Flash Facts

Kwashiorkor

1658

Genetics Flash Facts

Q0830:Alcoholic develops a rash; diarrhea; and altered mental status. What is the Vitamin Deficiency?

1659

Genetics Flash Facts

Vitamin B3 (pellagra)

1660

Genetics Flash Facts

Q0831:A 51-year-old man has black spots in his sclera and has noted that his urine turns black upon standing. What is his dx?

1661

Genetics Flash Facts

Alkaptonuria

1662

Genetics Flash Facts

Q0832:A 25-year-old male complains of severe chest pain and has xanthomas of his Achilles tendons. What is the dz and where is the defect?

1663

Genetics Flash Facts

Familial hypercholesterolemia; LDL receptor

1664

Genetics Flash Facts

Q0833:A woman complains of intense muscle cramps and darkened urine after exercise. What is the dx?

1665

Genetics Flash Facts

McArdle's Dz

1666

Genetics Flash Facts

Q0834:Two parents with albinismhave a sone who is normal. Why is the son not affected?

1667

Genetics Flash Facts

Locus heterogeneity

1668

Genetics Flash Facts

Q0835:A 40-year-old man has chronic pancreatitis with pancreatic insufficiency. What vitamins are likely deficient?

1669

Genetics Flash Facts

A;D;E;K

1670

Genetics Flash Facts

Q0836:What are the fat soluble vitamins?

1671

Genetics Flash Facts

A;D;E;K

1672

Genetics Flash Facts

Q0837:What two organs contribute most to the absorption of fat-soluble vitamins?

1673

Genetics Flash Facts

gut (ileum) and pancreas

1674

Genetics Flash Facts

Q0838:What dzs can cause fat soluble vitamin deficiencies?

1675

Genetics Flash Facts

Malabsorption syndromes such as CF; celiac sprue; miner oil intake can also cause deficiencies

1676

Genetics Flash Facts

Q0839:Which vitamins are water soluble?

1677

Genetics Flash Facts

B1; B2;B3;B5;B6;B12;C;Biotin;Folate

1678

Genetics Flash Facts

Q0840:Which water soluble vitamin does NOT wash out of the body easily and why?

1679

Genetics Flash Facts

Vit B12 because it is stored in the liver

1680

Genetics Flash Facts

Q0841:What are some common symptoms of B-complex deficiencies?

1681

Genetics Flash Facts

dermatitis; glossitis; and diarrhea

1682

Genetics Flash Facts

Q0842:What is another name for Vitamin A?

1683

Genetics Flash Facts

Retinol

1684

Genetics Flash Facts

Q0843:A deficiency in Vitamin A causes what symptoms?

1685

Genetics Flash Facts

night blindness; dry skin

1686

Genetics Flash Facts

Q0844:What is the function of Vitamin A?

1687

Genetics Flash Facts

constituent of visual pigments

1688

Genetics Flash Facts

Q0845:Excess of Vitamin A causes what symptoms?

1689

Genetics Flash Facts

arthralgias; fatigue; headaches; skin changes; sore throat; alopecia

1690

Genetics Flash Facts

Q0846:What is another name for Vitamin B1?

1691

Genetics Flash Facts

thiamine

1692

Genetics Flash Facts

Q0847:A deficiency in Vitamin B1 causes what symptoms?

1693

Genetics Flash Facts

BeriBeri and Wernike-Korsakoff syndrome

1694

Genetics Flash Facts

Q0848:What is the function of Vitamin B1?

1695

Genetics Flash Facts

a cofactor for oxidative decarboxylation of a-keto acids and a cofactor in the HMP shunt

1696

Genetics Flash Facts

Q0849:What is another name for Vitamin B2?

1697

Genetics Flash Facts

riboflavin

1698

Genetics Flash Facts

Q0850:A deficiency in Vitamin B2 causes what symptoms?

1699

Genetics Flash Facts

angular stomatitis; Cheilosis; corneal vascularization

1700

Genetics Flash Facts

Q0851:What is the function of Vitamin B2?

1701

Genetics Flash Facts

Cofactor for oxidation and reduction (e.g; FADH2)

1702

Genetics Flash Facts

Q0852:What is another name for Vitamin B3?

1703

Genetics Flash Facts

niacin

1704

Genetics Flash Facts

Q0853:A deficiency in Vitamin B3 causes what symptoms?

1705

Genetics Flash Facts

Pellagra: diarrhea; dermatitis; dementia

1706

Genetics Flash Facts

Q0854:What is the function of Vitamin B3?

1707

Genetics Flash Facts

Constituent of NAD; NADP (redox rxns); derived from tryptophan

1708

Genetics Flash Facts

Q0855:What is another name for Vitamin B5?

1709

Genetics Flash Facts

pantothenate

1710

Genetics Flash Facts

Q0856:A deficiency in Vitamin B5 causes what symptoms?

1711

Genetics Flash Facts

dermatitis; enteritis; alopecia; adrenal insufficiency

1712

Genetics Flash Facts

Q0857:What is the function of Vitamin B5?

1713

Genetics Flash Facts

Constituent of CoA and component of FA synthase

1714

Genetics Flash Facts

Q0858:A deficiency in Vitamin C causes what symptoms?

1715

Genetics Flash Facts

Scurvy - swollen gums; bruising; anemia; poor wound healing

1716

Genetics Flash Facts

Q0859:What is the function of Vitamin C?

1717

Genetics Flash Facts

needed for the hydroxylation of proline and lysine in collagen synthesis; keeps Fe+2 in a reduced state increaseinf Fe absorption; cofactor for DA->NE

1718

Genetics Flash Facts

Q0860:A deficiency in Vitamin A causes what symptoms?

1719

Genetics Flash Facts

night blindness; dry skin

1720

Genetics Flash Facts

Q0861:What is the function of Vitamin A?

1721

Genetics Flash Facts

constituent of visual pigments

1722

Genetics Flash Facts

Q0862:Excess of Vitamin A causes what symptoms?

1723

Genetics Flash Facts

arthralgias; fatigue; headaches; skin changes; sore throat; alopecia

1724

Genetics Flash Facts

Q0863:What is another name for Vitamin B1?

1725

Genetics Flash Facts

thiamine

1726

Genetics Flash Facts

Q0864:What is the function of Vitamin B1?

1727

Genetics Flash Facts

a cofactor for oxidative decarboxylation of a-keto acids and a cofactor in the HMP shunt

1728

Genetics Flash Facts

Q0865:What is another name for Vitamin B2?

1729

Genetics Flash Facts

riboflavin

1730

Genetics Flash Facts

Q0866:A deficiency in Vitamin B2 causes what symptoms?

1731

Genetics Flash Facts

angular stomatitis; Cheilosis; corneal vascularization

1732

Genetics Flash Facts

Q0867:What is the function of Vitamin B2?

1733

Genetics Flash Facts

Cofactor for oxidation and reduction (e.g; FADH2)

1734

Genetics Flash Facts

Q0868:What is another name for Vitamin B3?

1735

Genetics Flash Facts

niacin

1736

Genetics Flash Facts

Q0869:A deficiency in Vitamin B3 causes what symptoms?

1737

Genetics Flash Facts

Pellagra: diarrhea; dermatitis; dementia

1738

Genetics Flash Facts

Q0870:What is the function of Vitamin B3?

1739

Genetics Flash Facts

Constituent of NAD; NADP (redox rxns); derived from tryptophan

1740

Genetics Flash Facts

Q0871:What is another name for Vitamin B5?

1741

Genetics Flash Facts

pantothenate

1742

Genetics Flash Facts

Q0872:A deficiency in Vitamin B5 causes what symptoms?

1743

Genetics Flash Facts

dermatitis; enteritis; alopecia; adrenal insufficiency

1744

Genetics Flash Facts

Q0873:What is the function of Vitamin B5?

1745

Genetics Flash Facts

Constituent of CoA and component of FA synthase

1746

Genetics Flash Facts

Q0874:What is another name for Vitamin B6?

1747

Genetics Flash Facts

pyridoxine

1748

Genetics Flash Facts

Q0875:A deficiency in Vitamin B6 causes what symptoms?

1749

Genetics Flash Facts

convulsions; hyperirritability; peripheral neuropathy

1750

Genetics Flash Facts

Q0876:What is the function of Vitamin B6?

1751

Genetics Flash Facts

converted to pyridoxal phosphate; a cofactor in transanimation; decarboxylation and heme synthesis

1752

Genetics Flash Facts

Q0877:What is another name for Vitamin B12?

1753

Genetics Flash Facts

cobalamin

1754

Genetics Flash Facts

Q0878:A deficiency in Vitamin B12 causes what symptoms?

1755

Genetics Flash Facts

macrocytic; megaloblastic anemia; neurologic symptoms; glossitis

1756

Genetics Flash Facts

Q0879:What is the function of Vitamin B12?

1757

Genetics Flash Facts

cofactor in homocysteine methylation and methylmalonyl CoA handlining

1758

Genetics Flash Facts

Q0880:B12 is found in what types of foods?

1759

Genetics Flash Facts

Only animal products

1760

Genetics Flash Facts

Q0881:What test is used to detect a B12 deficiency?

1761

Genetics Flash Facts

Schilling Test

1762

Genetics Flash Facts

Q0882:What are the three main causes of a B12 deficiency?

1763

Genetics Flash Facts

Malabsorption; lack of intrinsic factor (pernicious anemia) or absence of terminal ileum (chron's dz)

1764

Genetics Flash Facts

Q0883:A deficiency in folic acid causes what symptoms?

1765

Genetics Flash Facts

macrocytic megaloblastic anemia w/o neuro symptoms (unlike B12)

1766

Genetics Flash Facts

Q0884:What is the function of Folic acid?

1767

Genetics Flash Facts

coenzyme for 1-carbon transfers (methylation rxns); needed for the synthesis of nitrogenous bases in DNA and RNA

1768

Genetics Flash Facts

Q0885:Supplemental folic acid is given in pregnancy to prevent what defects?

1769

Genetics Flash Facts

neural tube

1770

Genetics Flash Facts

Q0886:What is the folic acid precursor in bacteria?

1771

Genetics Flash Facts

PABA

1772

Genetics Flash Facts

Q0887:A deficiency in biotin causes what symptoms?

1773

Genetics Flash Facts

dermatitis; enteritis

1774

Genetics Flash Facts

Q0888:What is the function of biotin?

1775

Genetics Flash Facts

cofactor for carboxylation rxns: pyruvate -> oxaloacetate; Acetyl CoA -> malonyl CoA; Proprionyl CoA -> methylmalonyl CoA

1776

Genetics Flash Facts

Q0889:What is another name for Vitamin C?

1777

Genetics Flash Facts

Ascorbic acid

1778

Genetics Flash Facts

Q0890:A deficiency in Vitamin C causes what symptoms?

1779

Genetics Flash Facts

Scurvy - swollen gums; bruising; anemia; poor wound healing

1780

Genetics Flash Facts

Q0891:What is the function of Vitamin C?

1781

Genetics Flash Facts

needed for the hydroxylation of proline and lysine in collagen synthesis; keeps Fe+2 in a reduced state increaseinf Fe absorption; cofactor for DA->NE

1782

Genetics Flash Facts

Q0892:A deficiency in Vitamin D causes what symptoms?

1783

Genetics Flash Facts

Rickets in children and osteomalacia in adults (improper bone mineralization); hypocalcemic tetany

1784

Genetics Flash Facts

Q0893:What is the function of Vitamin D?

1785

Genetics Flash Facts

Increased absorption of Ca and P in the gut

1786

Genetics Flash Facts

Q0894:What is the mechanism by which Vitamin D deficiency causes tetany?

1787

Genetics Flash Facts

less D -> less Ca -> lowering the membrane potential of a cell -> making it easier to get to threshold for AP

1788

Genetics Flash Facts

Q0895:Excess of Vitamin D causes what symptoms?

1789

Genetics Flash Facts

Hypercalcemia; stupor; lossof appetite

1790

Genetics Flash Facts

Q0896:A deficiency in Vitamin E causes what symptoms?

1791

Genetics Flash Facts

Increased fragility of erythrocytes; neurodysfunction

1792

Genetics Flash Facts

Q0897:What is the function of Vitamin E?

1793

Genetics Flash Facts

Antioxidant: protects erythrocytes from hemolysis

1794

Genetics Flash Facts

Q0898:A deficiency in Vitamin K causes what symptoms?

1795

Genetics Flash Facts

Neonatal hemorrhage with increased PT and PTT; but normal bleeding time (neonates unable to synthesize Vit K)

1796

Genetics Flash Facts

Q0899:What is the function of Vitamin K?

1797

Genetics Flash Facts

Catalyzes gamma-carboxylation of glutamic acid residues on various proteins concerned with clotting; synthesized by intestinal flora

1798

Genetics Flash Facts

Q0900:What can cause a Vitamin K deficiency?

1799

Genetics Flash Facts

braod spectrum antibiotics (killing intestinal flora)

1800

Genetics Flash Facts

Q0901:What are the Vitamin K dependent clotting factors?

1801

Genetics Flash Facts

II; VII; IX; X; protein C and S

1802

Genetics Flash Facts

Q0902:Which drug is a Vitamin K antagonist?

1803

Genetics Flash Facts

Warfarin

1804

Genetics Flash Facts

Q0903:A deficiency in zinc causes what symptoms?

1805

Genetics Flash Facts

delayed wound healing; hypogonadism; decreased adult hair

1806

Genetics Flash Facts

Q0904:Outline the pathway of ethanol metabolism.

1807

Genetics Flash Facts

ethanol ->[alcohol dehydrogenase] -> Acetaldehyde >[acetaldehyde dehydrogenase]-> acetate

1808

Genetics Flash Facts

Q0905:What is the limiting reagent in the ethanol metabolism pathway?

1809

Genetics Flash Facts

NAD+

1810

Genetics Flash Facts

Q0906:What are the pharmacokinetics of alcohol dehydrogenase?

1811

Genetics Flash Facts

zero-order

1812

Genetics Flash Facts

Q0907:Which drug inhibits acetaldehyde dehydrogenase allowing for the accumulation of acetaldehyde and increasing hangover symptoms?

1813

Genetics Flash Facts

Disulfiram (anabuse)

1814

Genetics Flash Facts

Q0908:Describe the mechainsm for ethanol hypoglycemia in chronic alcoholics.

1815

Genetics Flash Facts

Ethanol metabolism -> increased NADH/NAD+ ratio in liver -> pyruvate diverts to lactate and OAA diverts to malate -> inhibition of gluconeogenesis

1816

Genetics Flash Facts

Q0909:Kwashiorkor is malnutrition resulting from what deficiency?

1817

Genetics Flash Facts

protein

1818

Genetics Flash Facts

Q0910:What does a pt with Kwashiorkor look like?

1819

Genetics Flash Facts

small child with a swollen belly

1820

Genetics Flash Facts

Q0911:Marasmus is a malnutrition syndrome resulting from what deficiency?

1821

Genetics Flash Facts

calories/energy

1822

Genetics Flash Facts

Q0912:What does a pt with marasmus look like?

1823

Genetics Flash Facts

small child with tissue and muscle wasting

1824

Genetics Flash Facts

Q0913:Describe the structure of chromatin.

1825

Genetics Flash Facts

(-)charged DNA loops choice around nucleosome core to form a nucleosome bead; H1 ties the nucleosomes together in a string

1826

Genetics Flash Facts

Q0914:Which is the only histone that is not in the nucleosome core?

1827

Genetics Flash Facts

H1

1828

Genetics Flash Facts

Q0915:Which form of chromatin is transcriptionally inactive? Active?

1829

Genetics Flash Facts

Inactive: heterochromatin Active: Euchromatin

1830

Genetics Flash Facts

Q0916:Which amino acids are necessary for purine synthesis?

1831

Genetics Flash Facts

Glycine; Aspartate; Glutamine

1832

Genetics Flash Facts

Q0917:Which nucleotide bonds are stronger and what is the consequence of this?

1833

Genetics Flash Facts

G-C bonds are stronger (3 H-bonds) resulting in a higher melting temperature

1834

Genetics Flash Facts

Q0918:In regards to nucleotides; what is transition?

1835

Genetics Flash Facts

substitution of a purine for a purine or pyrimidine for pyrimidine

1836

Genetics Flash Facts

Q0919:In regards to nucleotides; what is transversion?

1837

Genetics Flash Facts

substituting purine for pyrimidine or vice versa

1838

Genetics Flash Facts

Q0920:What are the four main features of the genetic code?

1839

Genetics Flash Facts

unambiguous; degenerate; nonoverlapping; universal

1840

Genetics Flash Facts

Q0921:What does it mean to say that the genetic code is degenerate?

1841

Genetics Flash Facts

more than one codon may code for the same amino acid

1842

Genetics Flash Facts

Q0922:What is the mechanism of base excision repair?

1843

Genetics Flash Facts

Glycosylases remove damaged bases; endonuclease cuts DNA at apyrimidinic site; sugar is removed; gap is filled and resealed

1844

Genetics Flash Facts

Q0923:What is the mechanism of mismatch repair?

1845

Genetics Flash Facts

unmethylated; newly synthesized string is recognized; mismatched nucleotides are removed; gap is filled and resealed

1846

Genetics Flash Facts

Q0924:Which DNA repair mechanism is mutated in hereditary nonpolyposis colon cancer?

1847

Genetics Flash Facts

mismatch repair

1848

Genetics Flash Facts

Q0925:What is the mechanism of nonhomologous end joining?

1849

Genetics Flash Facts

bringing together two ends of DNA fragments

1850

Genetics Flash Facts

Q0926:What is the direction of DNA/RNA/protein synthesis?

1851

Genetics Flash Facts

5' -> 3'

1852

Genetics Flash Facts

Q0927:How are amino acids joined?

1853

Genetics Flash Facts

N to C

1854

Genetics Flash Facts

Q0928:What are the three types of RNA?

1855

Genetics Flash Facts

mRNA; tRNA; rRNA

1856

Genetics Flash Facts

Q0929:Which type of RNA is the most abundant?

1857

Genetics Flash Facts

rRNA

1858

Genetics Flash Facts

Q0930:Which type of RNA is the largest?

1859

Genetics Flash Facts

mRNA

1860

Genetics Flash Facts

Q0931:Which type of RNA is the smallest?

1861

Genetics Flash Facts

tRNA

1862

Genetics Flash Facts

Q0932:What is the function of RNA pol-I?

1863

Genetics Flash Facts

makes rRNA

1864

Genetics Flash Facts

Q0933:What is the function of RNA pol-II?

1865

Genetics Flash Facts

Makes mRNA

1866

Genetics Flash Facts

Q0934:What is the function of RNA pol-III?

1867

Genetics Flash Facts

makes tRNA

1868

Genetics Flash Facts

Q0935:What substance; found in death cap mushrooms; inhibits RNA pol-II?

1869

Genetics Flash Facts

a-amanitin

1870

Genetics Flash Facts

Q0936:Which codon codes for methionine; thus initiating mRNA?

1871

Genetics Flash Facts

AUG

1872

Genetics Flash Facts

Q0937:What are the three stop codons?

1873

Genetics Flash Facts

UAA; UAG; UGA

1874

Genetics Flash Facts

Q0938:Which phase of the cell cycle is the shortest?

1875

Genetics Flash Facts

Mitosis

1876

Genetics Flash Facts

Q0939:In which phase is new DNA synthesized?

1877

Genetics Flash Facts

S phase

1878

Genetics Flash Facts

Q0940:What type of cells remain in Go and are regenerated from stem cells?

1879

Genetics Flash Facts

Permanent cells such as neurons; skeletal and cardiac muscle; RBCs

1880

Genetics Flash Facts

Q0941:What type of cells enter G1 from Go when stimulated?

1881

Genetics Flash Facts

Stable cells such as lymphocytes and hepatocytes

1882

Genetics Flash Facts

Q0942:What type of cells never go to Go and divide rapidly with a short G1?

1883

Genetics Flash Facts

Labile cells such as bone marrow; gut epithelium; skin; and hair follicles

1884

Genetics Flash Facts

Q0943:What is the function of the rough ER (RER)?

1885

Genetics Flash Facts

synthesis of secretory (exported) proteins and N-linked oligosaccharide addition to many proteins

1886

Genetics Flash Facts

Q0944:What type of cells are rich in RER?

1887

Genetics Flash Facts

Mucus-secreting goblet cells of the small intestine and antibody-secreting plasma cells

1888

Genetics Flash Facts

Q0945:What is the function of Nissl bodies in neurons?

1889

Genetics Flash Facts

synthesize enzymes (e.g; ChAT) and peptide neurotransmitters

1890

Genetics Flash Facts

Q0946:What is the function of the smooth ER (SER)?

1891

Genetics Flash Facts

site of steroid synthesis and detoxification of drugs and poisons

1892

Genetics Flash Facts

Q0947:What type of cells are rich in SER?

1893

Genetics Flash Facts

liver hepatocytes and steroid hormone-producing cells of the adrenal cortex

1894

Genetics Flash Facts

Q0948:What are the 6 main functions of the Golgi apparatus?

1895

Genetics Flash Facts

taking protwins and lipids from the ER to the PM/lysosomes/secretory vesicles; 2. Modifies N-oligosac. On asparagine; 3. adds O-oligosac to Ser and Thr; 4. addd mannose-6P to lysosomal proteins (targeting to lysosome); 5. prtoeoglycan assembly; 6. sulfation of sugar on proteoglycans

1896

Genetics Flash Facts

Q0949:What is the pathophys of I-cell disease and what are the consequences?

1897

Genetics Flash Facts

mannose-6P cannot be added to the lysosomal proteins so enzymes are secreted out of the cell instead of being targeted to the lysosome

1898

Genetics Flash Facts

Q0950:What are the characteristics of I-cell disease?

1899

Genetics Flash Facts

coarse facial features; clouded corneas; restricted joint movement; high plasma levels of lysosomal enzymes. Can be fatal in childhood

1900

Genetics Flash Facts

Q0951:What are the three main cvesicular trafficking proteins and where do they go?

1901

Genetics Flash Facts

1. COP-I: retrograde; Golgi -> ER; 2. COP-II anterograde; RER -> cis-Golgi; 3.Clathrin: trans-Golgi->lysosomes; plasma membrane->endosomes (receptor mediated endocytosis)

1902

Genetics Flash Facts

Q0952:In what cellular structures would one find microtubules?

1903

Genetics Flash Facts

flagella; cilia; mitotic spindles

1904

Genetics Flash Facts

Q0953:What are the four main drugs that act on microtubules and for what dz?

1905

Genetics Flash Facts

1. Mebendazole/thiabendazole (antihelminthic); 2. Taxol (antibreast ca); 3. Grisofulvin (antifungal); 4. Vineristine/vinblastine (anti-ca); 5. Colchicine (anti-gout)

1906

Genetics Flash Facts

Q0954:What syndrome is caused by a defect in microtubule polymerization resulting in decreased phagocytosis?

1907

Genetics Flash Facts

Chediak-Higashi

1908

Genetics Flash Facts

Q0955:Describe the structure of cilia.

1909

Genetics Flash Facts

9+2 arrangement of microtubules; doublets linked by dynein ATPase and allows for the bending of cilia

1910

Genetics Flash Facts

Q0956:Which protein is responsible for retrograde motion of cilia? Anterograde?

1911

Genetics Flash Facts

retrograde = dynein; anterograde = kinesin

1912

Genetics Flash Facts

Q0957:What is Kartagener's syndrome?

1913

Genetics Flash Facts

immobile cilia due to a dynein arm defect

1914

Genetics Flash Facts

Q0958:What are the symptoms of Kartagener's syndrome?

1915

Genetics Flash Facts

infertility in both males and females; bronchiectasis; recurrent sinitus (any place where cilia are moving things around)

1916

Genetics Flash Facts

Q0959:What are the two most abundant components of the plasma membrane?

1917

Genetics Flash Facts

cholesterol and phospholipids

1918

Genetics Flash Facts

Q0960:What is the major component of RBC membranes; myelin; bile and surfactant?

1919

Genetics Flash Facts

phosphatidylcholine (lecithin)

1920

Genetics Flash Facts

Q0961:What is the NA/ K exchange ratio in a Na/K ATPase pump?

1921

Genetics Flash Facts

3 Na out:2 K in

1922

Genetics Flash Facts

Q0962:Explain when in the exchange is the Na/K ATPase pump phosphorylated/dephos?

1923

Genetics Flash Facts

Phosphorylated to let Na out (ATP->ADP) and dephosphorylated to let K in

1924

Genetics Flash Facts

Q0963:What is the most abundant protein in the human body?

1925

Genetics Flash Facts

collagen

1926

Genetics Flash Facts

Q0964:90% of all collagen is of what type?

1927

Genetics Flash Facts

Type I

1928

Genetics Flash Facts

Q0965:Type I collagen provides support for which organs/functions?

1929

Genetics Flash Facts

Bone; Skin; Tendon; dentin; fascia; cornea; late wound repair

1930

Genetics Flash Facts

Q0966:Type II collagen provides support for which organs/functions?

1931

Genetics Flash Facts

Cartilage; vitreous body; nucleus pulposus

1932

Genetics Flash Facts

Q0967:Type III collagen provides support for which organs/functions?

1933

Genetics Flash Facts

Reticulin: skin; blood vessels; uterus; fetal tissue; granulation tissue

1934

Genetics Flash Facts

Q0968:Type IV collagen provides support for which organs/functions?

1935

Genetics Flash Facts

Basement membrane or basa lamina

1936

Genetics Flash Facts

Q0969:What are the four phases of collagen synthesis in the fibroblasts and where do they take place?

1937

Genetics Flash Facts

1. synthesis (RER); 2. hydroxylation (ER); 3. glycosylation (Golgi); 4. exocytosis as procollagen

1938

Genetics Flash Facts

Q0970:What are the two phases of collagen synthesis that occur outside of the fibroblasts?

1939

Genetics Flash Facts

1. proteolytic processing (procollagen ->tropocollagen); 2. cross-linking by covalent Lys-hydroxylysine = collagen fibrils

1940

Genetics Flash Facts

Q0971:What stage of collagen synthesis requires Vitamin C?

1941

Genetics Flash Facts

hydroxylation in the ER

1942

Genetics Flash Facts

Q0972:What are the three signs of Ehlers-Danlos syndrome?

1943

Genetics Flash Facts

1. hyperextensible skin; 2. tendency to bleed; 3. hypermobile joints (faulty collagen synthesis)

1944

Genetics Flash Facts

Q0973:What type of collagen is most affected by EhlersDanlo syndrome?

1945

Genetics Flash Facts

Type III (blood vessel instability)

1946

Genetics Flash Facts

Q0974:What is the most common form of osteogenesis imperfecta?

1947

Genetics Flash Facts

AD inheritance with abnl Type I synthesis

1948

Genetics Flash Facts

Q0975:What are the key clinical features of osteogenesis imperfecta?

1949

Genetics Flash Facts

1. multiple fractures from minimal trauma (brittle bone); 2. blue sclerae (translucency of connective tissue over the choroid); 3. hearing loss; 4. dental imperfections

1950

Genetics Flash Facts

Q0976:What may osteogenesis imperfecta be confused with upon examination?

1951

Genetics Flash Facts

child abuse

1952

Genetics Flash Facts

Q0977:For the following cell type; state the immunohistochemical stain used to see it: connective tissue

1953

Genetics Flash Facts

Vimentin

1954

Genetics Flash Facts

Q0978:For the following cell type; state the immunohistochemical stain used to see it: Muscle

1955

Genetics Flash Facts

Desmin

1956

Genetics Flash Facts

Q0979:For the following cell type; state the immunohistochemical stain used to see it: Epithelial cells

1957

Genetics Flash Facts

cytokeratin

1958

Genetics Flash Facts

Q0980:For the following cell type; state the immunohistochemical stain used to see it: Neuroglia

1959

Genetics Flash Facts

glial fibrillary acid proteins (GFAP)

1960

Genetics Flash Facts

Q0981:For the following cell type; state the immunohistochemical stain used to see it: neurons

1961

Genetics Flash Facts

neurofilaments

1962

Genetics Flash Facts

Q0982:In what structures does one find elastin?

1963

Genetics Flash Facts

lungs; large arteries; elastic ligaments

1964

Genetics Flash Facts

Q0983:Elastin is rich in which two amino acids?

1965

Genetics Flash Facts

Proline and lysine

1966

Genetics Flash Facts

Q0984:Marfan syndrome is caused by a defect in which component of elastin?

1967

Genetics Flash Facts

fibrillin

1968

Genetics Flash Facts

Q0985:Elastase is inhibited in which disease? (Hint: it also causes early-onset emphysema)

1969

Genetics Flash Facts

a1-antitrypsin deficiency

1970

Genetics Flash Facts

Q0986:What syndrome is caused by a defect in microtubule polymerization resulting in decreased phagocytosis?

1971

Genetics Flash Facts

Chediak-Higashi

1972

Genetics Flash Facts

Q0987:Fructose intolerance is a hereditary deficiency of what enzyme?

1973

Genetics Flash Facts

Aldolase B

1974

Genetics Flash Facts

Q0988:What is the pathophys of fructose intolerance?

1975

Genetics Flash Facts

fructose-1-P accumulates causing decreased available phosphate resulting in inhibition of glycogenolysis and gluconeogenesis

1976

Genetics Flash Facts

Q0989:What is the tx for fructose intolerance?

1977

Genetics Flash Facts

decrease intake of both fructose and sucrose (glucose and fructose)

1978

Genetics Flash Facts

Q0990:Essential fructosuria is a defect in which enzyme?

1979

Genetics Flash Facts

fructokinase

1980

Genetics Flash Facts

Q0991:Galactosemia results from the absence in what enzyme?

1981

Genetics Flash Facts

galactose-1-phosphate uridyltransferase

1982

Genetics Flash Facts

Q0992:What is the pattern of inheritance in galactosemia?

1983

Genetics Flash Facts

AR

1984

Genetics Flash Facts

Q0993:What are the symptoms of galactosemia?

1985

Genetics Flash Facts

cataracts; hepatosplenomegaly; mental retardation

1986

Genetics Flash Facts

Q0994:Lactase deficiency is a hereditary lactose intolerance due to a loss of what type of enzyme?

1987

Genetics Flash Facts

Brush border enzyme

1988

Genetics Flash Facts

Q0995:What demographic is most susceptible to lactase deficiency and what are the sx?

1989

Genetics Flash Facts

blacks; Asians; bloating; cramps; osmotic diarrhea

1990

Genetics Flash Facts

Q0996:What are the essential amino acids?

1991

Genetics Flash Facts

Phe; Val; Trp; Thr; Ile; Met; His; Arg; Leu; Lys

1992

Genetics Flash Facts

Q0997:what is the pathophys of hyperammonemia?

1993

Genetics Flash Facts

excess NH4 depletes a-ketoglutarate; leading to inhibition of TCA cycle

1994

Genetics Flash Facts

Q0998:What are the sx of ammonia intoxication?

1995

Genetics Flash Facts

tremor; slurring of speech; somnolence; vomiting; cerebral edema; blurring vision

1996

Genetics Flash Facts

Q0999:What are the three main derivatives of phenylalanine?

1997

Genetics Flash Facts

Dopamine; NE; Epi

1998

Genetics Flash Facts

Q1000:What are the three main derivatives of tryptophan?

1999

Genetics Flash Facts

Niacin; serotonin; melatonin

2000

Genetics Flash Facts

Q1001:What causes the musty odor of PKU?

2001

Genetics Flash Facts

disorder of excess aromatic amino acids

2002

Genetics Flash Facts

Q1002:Variable inheritance of albinism is due to what genetic mechanism?

2003

Genetics Flash Facts

locus heterozygosity

2004

Genetics Flash Facts

Q1003:Albinism is a congential deficiency one of which two items?

2005

Genetics Flash Facts

1. Tyrosine (auto. Recess.) or 2. defective tyrosine transporters

2006

Genetics Flash Facts

Q1004:All forms of homocystinuria have wha inheritance pattern?

2007

Genetics Flash Facts

autosomal recessive

2008

Genetics Flash Facts

Q1005:What are the sx of homocystinuria?

2009

Genetics Flash Facts

mental retardation; osteoporosis; tall stature; kyphosis; lens subluxation; atherosclerosis (stroke and MI)

2010

Genetics Flash Facts

Q1006:The conversion of methionine to cysteine is dependent on which two vitamins?

2011

Genetics Flash Facts

B6 (homocysteine to cystothionine) and B12 (homocysteine back to Met)

2012

Genetics Flash Facts

Q1007:Maple syrup urine disease is due to what defect?

2013

Genetics Flash Facts

Blocked degradation of branced amino acid (Ile; Val; Leu) due to decreased a-ketoacid dehydrogenase

2014

Genetics Flash Facts

Q1008:What are the sx of maple syrup urine disease?

2015

Genetics Flash Facts

CNS defecs; mental retardation and death

2016

Genetics Flash Facts

Q1009:Adenosine deanimase deficiency can cause what other major immunologic complication?

2017

Genetics Flash Facts

SCID

2018

Genetics Flash Facts

Q1010:For the following lysosomal storage dz state (1) main findings; (2) deficient enzyme; (3)accumulated substrate and (4) inheritance pattern: Fabry's Dz

2019

Genetics Flash Facts

1. peripheral neuropathy of hands/feet; CV/renal dz;2. agalactosidase A;3. ceramide trihexoside;4. XR

2020

Genetics Flash Facts

Q1011:For the following lysosomal storage dz state (1) main findings; (2) deficient enzyme; (3)accumulated substrate and (4) inheritance pattern: Gaucher's Dz

2021

Genetics Flash Facts

1. hepatosplenomegally; aseptic necrosis of femur; bone crises; Gaucher cells (macrophages);2. B-glucocerebrosidase;3. glucocerebroside;4. AR;Most common lysosomal storage dz

2022

Genetics Flash Facts

Q1012:For the following lysosomal storage dz state (1) main findings; (2) deficient enzyme; (3)accumulated substrate and (4) inheritance pattern: Neimann-Pick

2023

Genetics Flash Facts

1. progressive neurodegeneration; hepatosplenomegally; cherry red spot (on macula);2. Sphingomyelinase;3. Shingomyelin;4. AR

2024

Genetics Flash Facts

Q1013:For the following lysosomal storage dz state (1) main findings; (2) deficient enzyme; (3)accumulated substrate and (4) inheritance pattern: Tay-Sachs

2025

Genetics Flash Facts

1. progressive neurodegeneration; developmental delay; lysozymes with onion skin;2. Hexosaminidase A;3. GM2 ganglioside;4. AR

2026

Genetics Flash Facts

Q1014:For the following lysosomal storage dz state (1) main findings; (2) deficient enzyme; (3)accumulated substrate and (4) inheritance pattern: Krabbe's dz

2027

Genetics Flash Facts

1. peripheral neuropathy; developmental delay; optic atrophy;2. B-galactosidase;3. Galactocerebroside;4. AR

2028

Genetics Flash Facts

Q1015:For the following lysosomal storage dz state (1) main findings; (2) deficient enzyme; (3)accumulated substrate and (4) inheritance pattern: Metachromic leukodystrophy

2029

Genetics Flash Facts

1. central and peripheral demyelination with ataxia and dementia;2. Arylsulfatase A;3. Cerebroside sulfate;4. AR

2030

Genetics Flash Facts

Q1016:In fatty acid synthesis; the conversion of Acetyl-CoA to Malonyl CoA requires what cofactor?

2031

Genetics Flash Facts

Biotin

2032

Genetics Flash Facts

Q1017:In fatty acid synthesis; what mechanism carries acetyl CoA across the inner mitochondril membrane into the cytoplasm?

2033

Genetics Flash Facts

Citrate shuttle

2034

Genetics Flash Facts

Q1018:In fatty acid degradation; what mechanism carries acyl CoA across the inner mitochondrial membrane into the mitochondria?

2035

Genetics Flash Facts

carnitine shuttle

2036

Genetics Flash Facts

Q1019:What is the rate limiting step in fatty acid degradation?

2037

Genetics Flash Facts

Carnitine shuttle

2038

Genetics Flash Facts

Q1020:Under what physiological conditions will one see ketone bodies?

2039

Genetics Flash Facts

DKA or prolonged starvation

2040

Genetics Flash Facts

Q1021:The rate limiting step in cholesterol synthesis is catalyzed by which enzyme?

2041

Genetics Flash Facts

HMG-CoA reductase

2042

Genetics Flash Facts

Q1022:What is the classification of the drug Lovastatin?

2043

Genetics Flash Facts

HMG-CoA reductase inhibitor

2044

Genetics Flash Facts

Q1023:What are the two essential fatty acids?

2045

Genetics Flash Facts

Linoeic acid and linolenic acid

2046

Genetics Flash Facts

Q1024:What is the function of pancreatic lipase?

2047

Genetics Flash Facts

degradation of TG in sm intestine

2048

Genetics Flash Facts

Q1025:What is the function of lipoprotein lipase?

2049

Genetics Flash Facts

degradation of TG circulating in chylomicrons and VLDLs

2050

Genetics Flash Facts

Q1026:What is the function of Hepatic TG lipase?

2051

Genetics Flash Facts

degradation of TG remaining in IDL

2052

Genetics Flash Facts

Q1027:What is the function of hormone-sensitive lipase?

2053

Genetics Flash Facts

Degradation of TG stored in adipocytes

2054

Genetics Flash Facts

Q1028:What is the funtion of lecithin-cholesterol acyltransferase (LCAT)?

2055

Genetics Flash Facts

catalyzes the esterification of cholesterol

2056

Genetics Flash Facts

Q1029:what is the function of cholesterol ester transfer protein (CETP)?

2057

Genetics Flash Facts

mediated the transfer of cholesterol esters to other lipoprotein particles

2058

Genetics Flash Facts

Q1030:What is the role of apolipoprotein A-I?

2059

Genetics Flash Facts

activates LCAT

2060

Genetics Flash Facts

Q1031:What is the role of apolipoprotein B-100?

2061

Genetics Flash Facts

binds to LDL receptor; mediates VLDL secretion

2062

Genetics Flash Facts

Q1032:What is the role of apolipoprotein C-II?

2063

Genetics Flash Facts

cofactor for lipoprotein lipase

2064

Genetics Flash Facts

Q1033:What is the role of apolipoprotein B-48?

2065

Genetics Flash Facts

mediates chylomicrom secretion

2066

Genetics Flash Facts

Q1034:What is the role of apolipoprotein E?

2067

Genetics Flash Facts

Mediates remnant uptake (Extra uptake)

2068

Genetics Flash Facts

Q1035:What is the function of the following lipoprotein: Chylomicron

2069

Genetics Flash Facts

delivers dietary TGs to peripheral tissues and cholesterol to the liver

2070

Genetics Flash Facts

Q1036:What apo's are associated with chylomicrons?

2071

Genetics Flash Facts

B-48; A;C; and E

2072

Genetics Flash Facts

Q1037:What is the function of the following lipoprotein: VLDL

2073

Genetics Flash Facts

delivers hepatic TGs to peripheral tissues

2074

Genetics Flash Facts

Q1038:what apos are associated with VLDL?

2075

Genetics Flash Facts

B-100; C-II and E

2076

Genetics Flash Facts

Q1039:What is the function of the following lipoprotein: IDL

2077

Genetics Flash Facts

Delivers TGs and cholesterol to the liver to be degraded to LDL

2078

Genetics Flash Facts

Q1040:What apos are associated with IDL?

2079

Genetics Flash Facts

B-100 and E

2080

Genetics Flash Facts

Q1041:What is the function of the following lipoprotein: LDL

2081

Genetics Flash Facts

delivers hepatic cholesterol to peripheral tissues

2082

Genetics Flash Facts

Q1042:What apos are associated with LDL?

2083

Genetics Flash Facts

B-100

2084

Genetics Flash Facts

Q1043:What is the function of the following lipoprotein: HDL

2085

Genetics Flash Facts

mediates centripital transport of cholesterol (periphery to liver); repository for apoC and apoE

2086

Genetics Flash Facts

Q1044:Hypercholesterolemia has which Family type? what is increased?

2087

Genetics Flash Facts

Type IIa;Increased LDL

2088

Genetics Flash Facts

Q1045:Combined hypercholesterolemia has which familial type? what is increased?

2089

Genetics Flash Facts

Type IIb;LDL; VLDL both increased

2090

Genetics Flash Facts

Q1046:Hypertriglyceridemia has which familial type? what is increased?

2091

Genetics Flash Facts

Type IV;VLDL increased

2092

Genetics Flash Facts

Q1047:Type IIa hypercholesterolemia has what pathophysiology?

2093

Genetics Flash Facts

decreased number of LDL receptors

2094

Genetics Flash Facts

Q1048:What metabolic processes occur solely in the mitochondria?

2095

Genetics Flash Facts

FA oxidation (b-oxidation); acetyl CoA production; Krebs

2096

Genetics Flash Facts

Q1049:What metabolic processes occur solely in the cytoplasm?

2097

Genetics Flash Facts

glycolysis; FA synthesis; HMP shunt; protein synthesis (RER); steroid synthesis (SER)

2098

Genetics Flash Facts

Q1050:What metabolic processes occur in both the mitochondria and the cytoplasm?

2099

Genetics Flash Facts

Gluconeogenesis; urea cycle; heme synthesis

2100

Genetics Flash Facts

Q1051:Regeneration of methionine (and thus S-adenosylmethionine/SAM) is dependent on what factor?

2101

Genetics Flash Facts

B12

2102

Genetics Flash Facts

Q1052:What three enzymes are associated with respiratory burst in the phagolysosome?

2103

Genetics Flash Facts

NADPH oxidase;Superoxide dismutase;Myeloperoxidase

2104

Genetics Flash Facts

Q1053:What three enzymes are associated with oxidative burst in the neutrophil?

2105

Genetics Flash Facts

Catalase/glutathione peroxidase;Glutathione reductase;G6PD

2106

Genetics Flash Facts

Q1054:Fructose intolerance is an inherent deficiency of what enzyme?

2107

Genetics Flash Facts

aldolase B

2108

Genetics Flash Facts

Q1055:What metabolic processes are inhibited from a fructose deficiency?

2109

Genetics Flash Facts

glyogenolysis and gluconeogenesis

2110

Genetics Flash Facts

Q1056:What are the symptoms of fructose intolerance?

2111

Genetics Flash Facts

hypoglycemia; jaundice; cirrhosis; vomiting

2112

Genetics Flash Facts

Q1057:What is the treatment for fructose intolerance?

2113

Genetics Flash Facts

decrease intake of fructose and sucrose (glucose and fructose)

2114

Genetics Flash Facts

Q1058:the appearance of fructose in the blood or urine is due to a defect in what enzyme? What is the px?

2115

Genetics Flash Facts

fructokinase; the condition in benign and asymptomatic

2116

Genetics Flash Facts

Q1059:Galactosemia is caused by the absence of what enzyme?

2117

Genetics Flash Facts

galactose-1-phosphate uridyltransferase

2118

Genetics Flash Facts

Q1060:What is the inheritance pattern and sx of galactosemia?

2119

Genetics Flash Facts

AR; cataracts; hepatosplenomegally; mental retardation

2120

Genetics Flash Facts

Q1061:Lactase deficiency is due to a loss of the enzyme from what area of the body?

2121

Genetics Flash Facts

Brush border

2122

Genetics Flash Facts

Q1062:What are the symptoms of lactase deficiency?

2123

Genetics Flash Facts

bloating; cramps; osmotic diarrhea

2124

Genetics Flash Facts

Q1063:Which are the essential amino acids?

2125

Genetics Flash Facts

Leu; Lys; Ile; Phe; Trp; Met; Thr; Val; Arg; His

2126

Genetics Flash Facts

Q1064:Which two essential amino acids are increased in histones which bind negatively charged DNA?

2127

Genetics Flash Facts

Arg; Lys

2128

Genetics Flash Facts

Q1065:What is the direct effect of excess NH4 (hyperammonemia) on metabolism?

2129

Genetics Flash Facts

depletes a-ketoglutarate -> inhibition of the TCA cycle

2130

Genetics Flash Facts

Q1066:What is the treatment for hyperammonenmia?

2131

Genetics Flash Facts

Arginine

2132

Genetics Flash Facts

Q1067:What are the signs of ammonia intoxication?

2133

Genetics Flash Facts

tremor; slurring of speech; somnolence; vomiting; cerebral edema; blurring of vision

2134

Genetics Flash Facts

Q1068:What is the fnxn of the urea cycle?

2135

Genetics Flash Facts

to degrade amino acids into amino groups

2136

Genetics Flash Facts

Q1069:What are the 8 main players in the urea cycle?

2137

Genetics Flash Facts

Ornithine; Carbamoyl; Citruline; Aspartate; Argininosuccinate; Fumarate; Arginine; Urea;Ordinarily Careless; Crappers Are Also Frivolous About Urination

2138

Genetics Flash Facts

Q1070:What are the main derivatives of Phenylalanine?

2139

Genetics Flash Facts

Tyrosine;Dopamine;NE ;EPI

2140

Genetics Flash Facts

Q1071:What are the main derivatives of Tryptophan?

2141

Genetics Flash Facts

Niacin (NAD/NADP);Serotonin;Melatonin

2142

Genetics Flash Facts

Q1072:What are the main derivatives of Histidine?

2143

Genetics Flash Facts

Histamine

2144

Genetics Flash Facts

Q1073:What are the main derivatives of Glycine?

2145

Genetics Flash Facts

Heme

2146

Genetics Flash Facts

Q1074:What are the main derivatives of Arginine?

2147

Genetics Flash Facts

Creatine;Urea;NO

2148

Genetics Flash Facts

Q1075:What are the main derivatives of glutamate?

2149

Genetics Flash Facts

GABA

2150

Genetics Flash Facts

Q1076:What enzyme is decreased in PKU?

2151

Genetics Flash Facts

phenylalanine hydroxylase (or tetrahydrobiopterin cofactor)

2152

Genetics Flash Facts

Q1077:What is the treatment for PKU?

2153

Genetics Flash Facts

Decrease phenylalanine and increase tyrosine

2154

Genetics Flash Facts

Q1078:Alkaptonuria is caused by a deficiency of what enzyme?

2155

Genetics Flash Facts

homogentisic acid oxidase (alkapton bodies cause urine to turn black when standing)

2156

Genetics Flash Facts

Q1079:Abinism is a congenital deficiency in what two factors?

2157

Genetics Flash Facts

Either tyrosinase or defective tyrosine transporters

2158

Genetics Flash Facts

Q1080:Albinism exhibits variable inheritance due to what mechanism?

2159

Genetics Flash Facts

locus heterozygosity

2160

Genetics Flash Facts

Q1081:What is the inheritance pattern for all three forms of homocystinuria?

2161

Genetics Flash Facts

AR

2162

Genetics Flash Facts

Q1082:What are the three forms of homocystinuria?

2163

Genetics Flash Facts

1. cystathionine synthase deficiency;2. decreased affinity of cystathionine synthase for pyridoxal phosphate;3. methionine synthase deficiency

2164

Genetics Flash Facts

Q1083:Cystinuria is a common inherited defect of;

2165

Genetics Flash Facts

the renal tubular amino acid transporter for cystine; ornithine; lysine; and arginine

2166

Genetics Flash Facts

Q1084:What can be a sequellae of excess cystine in the urine?

2167

Genetics Flash Facts

cystine kidney stones

2168

Genetics Flash Facts

Q1085:What is the treatment for cystinuria?

2169

Genetics Flash Facts

acetazolamide (alkalinize the urine)

2170

Genetics Flash Facts

Q1086:Maple syrup urine disease is caused by a decrease in which enzyme?

2171

Genetics Flash Facts

a-ketoacid dehydrogenase

2172

Genetics Flash Facts

Q1087:Which amino acids canno be degraded in maple syrup urine disease?

2173

Genetics Flash Facts

Ile; Leu; Val;I Love Vermont maple syrup

2174

Genetics Flash Facts

Q1088:What is codominance?

2175

Genetics Flash Facts

Neither of two alleles is dominant (e.g. blood groups)

2176

Genetics Flash Facts

Q1089:What is variable expression?

2177

Genetics Flash Facts

nature and severity of the phenotype varies from 1 individual to another

2178

Genetics Flash Facts

Q1090:What is incomplete penetrance?

2179

Genetics Flash Facts

Not all individuals with a mutant genotype show the mutant phenotype

2180

Genetics Flash Facts

Q1091:What is pleiotropy?

2181

Genetics Flash Facts

1 gene has > 1 effect on an individual's phenotype

2182

Genetics Flash Facts

Q1092:What is imprinting?

2183

Genetics Flash Facts

At a single locus; only one allele is active; the other is inactive (methylation).Differneces in phenotype depend on whether the mutation is of maternal or paternal origin (e.g. Prader-Willi = paternal)

2184

Genetics Flash Facts

Q1093:What is anticipation?

2185

Genetics Flash Facts

Severity of disease worsens or age of onset of disease is earlier in succeeding generations (e.g. Huntington's)

2186

Genetics Flash Facts

Q1094:What is loss of heterozygosity?

2187

Genetics Flash Facts

If a patient inherits or develops a mutation in a tumor suppressor gene; the complementary allele must be deleted/mutated before the cancer develops (NOT true of oncogenes)

2188

Genetics Flash Facts

Q1095:What is a dominant negative mutation?

2189

Genetics Flash Facts

exerts a dominant effect. A heterozygote produces a nonfunctional altered protein that also prevents the normal gene product from functioning

2190

Genetics Flash Facts

Q1096:What is linkage disequilibrium?

2191

Genetics Flash Facts

tendency for certain alleles at 2 linked loci to occur together more often than expected by chance. Measured in a population; not in a family; and often varies in different populations

2192

Genetics Flash Facts

Q1097:What is mosacism?

2193

Genetics Flash Facts

when cells in the body have different genetic makeup (e.g.lyonization--random X inactivation in females)

2194

Genetics Flash Facts

Q1098:What is locus heterogeneity?

2195

Genetics Flash Facts

Mutations at different loci can produce the same phenotype

2196

Genetics Flash Facts

Q1099:If a population is in Hardy-weinberg equilibrium; how do you measure allele prevalence?

2197

Genetics Flash Facts

p^2 + 2pq + q^2 = 1; p and q are separate alleles and 2pq is the prevalence of heterozygotes

2198

Genetics Flash Facts

Q1100:If a population is in Hardy-weinberg equilibrium; how do you measure allele prevalence?

2199

Genetics Flash Facts

p+q=1

2200

Genetics Flash Facts

Q1101:What are the 4 assumptions of Hardy-Weinberg law?

2201

Genetics Flash Facts

1. no mutation; 2. no selection for any of the genotypes at a locus; 3. Random mating; 4. no migration into or out of a population

2202

Genetics Flash Facts

Q1102:In Prader-Willi; whose normally active allele is deleted (maternal or paternal)?

2203

Genetics Flash Facts

Paternal (opposite for angelman's)

2204

Genetics Flash Facts

Q1103:What are some of the features of autosomal dominant inheritance?

2205

Genetics Flash Facts

many generations affected; both male and female; often pleiotropic; present after puberty

2206

Genetics Flash Facts

Q1104:What are some of the features of autosomal recessive inheritance?

2207

Genetics Flash Facts

25% of offspring from 2 carrier parents affected; due to enzyme deficiencies; usually only seen in 1 generation; more severe than AD; presents in childhood

2208

Genetics Flash Facts

Q1105:What are some of the features of X-linked recessive inheritance?

2209

Genetics Flash Facts

Sons of heterozygous mothers have a 50% chance; commonly more severe in males but heterozygous females may be affected

2210

Genetics Flash Facts

Q1106:What are some of the features of X-linked dominant inheritance?

2211

Genetics Flash Facts

transmitted through both parents; ALL female offspring of an affected father will be diseased (either male of female from mother); hypophosphatemic rickets

2212

Genetics Flash Facts

Q1107:What are some of the features of mitochondrial inheritance?

2213

Genetics Flash Facts

transmitted only through mother; all offspring of affected mother show disease; Leber's hereditary optic neuropathy

2214

Genetics Flash Facts

Q1108:Mode of inheritance and major features: APKD

2215

Genetics Flash Facts

AD; always bilateral; mutation in APKD1 (Chr 16); berry aneurysms; mitral valve prolapse (juvie form is recessive)

2216

Genetics Flash Facts

Q1109:Mode of inheritance and major features: familial hypercholesterolemia

2217

Genetics Flash Facts

AD; elevated LDL from a defective or absent LDL receptor; severe atherosclerosis disease at young age; tendon xanthomas (achilles); may have MI before age 20

2218

Genetics Flash Facts

Q1110:Mode of inheritance and major features: Marfan's Syndrome

2219

Genetics Flash Facts

AD; fibrilin gene mutation = connective tissue disorders; tall; aortic incomptenece and dissecting aortic aneurysms; floppy mitral valve

2220

Genetics Flash Facts

Q1111:Mode of inheritance and major features: Neurofibromatosis; type 1

2221

Genetics Flash Facts

AD long arm of chr. 17; caf-au-lait spots; neural tumors; Lisch nodules (pigmented iris hamartomas); pheo's

2222

Genetics Flash Facts

Q1112:Mode of inheritance and major features: Neurofibromatosis; type 2

2223

Genetics Flash Facts

AD; bilateral acoustic neuroma; juvenile cataracts; NF2 gene on chr 22 (type 2 = 22)

2224

Genetics Flash Facts

Q1113:Mode of inheritance and major features: tuberous sclerosis

2225

Genetics Flash Facts

AD; facial lesions (adenoma sebaceum); hypopigmented "ash leaf spots" on skin; cardiac rhabdomyomas; incomplete penetrance/variable presentation

2226

Genetics Flash Facts

Q1114:Mode of inheritance and major features: von HippelLindau dz (VHL)

2227

Genetics Flash Facts

AD; hemangioblastomas of the retina/cerebellum/medulla; 50% develop multiple bilateral renal cell carcinomas; deletion of VHL gene on Chr 3 (three words for Chr 3)

2228

Genetics Flash Facts

Q1115:Mode of inheritance and major features: Huntington's

2229

Genetics Flash Facts

AD; triplet repeat disorder on chr 4; depression; progressive dementia; choreiform movements; caudate atrophy; decreased levels of GABA and ACh in brain

2230

Genetics Flash Facts

Q1116:Mode of inheritance and major features: Familial adenomatus polyposis

2231

Genetics Flash Facts

AD; progresses to colon cancer unless resected; Deletion on chr. 5 (5 letters in polyp)

2232

Genetics Flash Facts

Q1117:Mode of inheritance and major features: Hereditary spherocytosis

2233

Genetics Flash Facts

AD; spheroid erythrocytes; hemolytic anemia; increases MCHC; splenectomy is curative

2234

Genetics Flash Facts

Q1118:Mode of inheritance and major features: Achondroplasia

2235

Genetics Flash Facts

AD; cell-signalling defect of fibroblast growth factor (FGF) receptor 3; dwarfism (short limbs but head and truck are normal size); associated with advanced PATERNAL age

2236

Genetics Flash Facts

Q1119:What gene is defective in cystic fibrosis?

2237

Genetics Flash Facts

CFTR on chromosome 7

2238

Genetics Flash Facts

Q1120:What are the typical manifestations of a pt with CF?

2239

Genetics Flash Facts

recurrent pulmonary infections; infertility in males (absent vas deferens); fat soluble vitamin deficiencies

2240

Genetics Flash Facts

Q1121:What is the treatment for CF?

2241

Genetics Flash Facts

n-acetylcysteine to loosen mucous plugs

2242

Genetics Flash Facts

Q1122:What are the typical X-linked recessive disorders?

2243

Genetics Flash Facts

Bruton's agammaglobulinemia; Fragile X; G6PD deficiency; ocular albinism; Lesch-Nyhan; Duchenne's; Hemophilia A and B; Fabry's dz; Hunter's syndrome

2244

Genetics Flash Facts

Q1123:Duchenne's MD is caused by what type of genetic mutation?

2245

Genetics Flash Facts

Frame shift leading to deletion of the dystrophin gene

2246

Genetics Flash Facts

Q1124:What movement is a diagnostic sign of Duchenne's MD?

2247

Genetics Flash Facts

Gower's maneuver

2248

Genetics Flash Facts

Q1125:What is the less severe form of duchenne's MD?

2249

Genetics Flash Facts

Becker's

2250

Genetics Flash Facts

Q1126:What is the 2nd most common cause of genetic mental retardation after Down's?

2251

Genetics Flash Facts

Fragile X syndrome

2252

Genetics Flash Facts

Q1127:What are the clinical features of Fragile X syndrome?

2253

Genetics Flash Facts

macro-orchidism; long face with a large jaw; large everted ears; autism

2254

Genetics Flash Facts

Q1128:What type of disorder is Fragile X?

2255

Genetics Flash Facts

Triple repeat (CGG) - may show anticipation

2256

Genetics Flash Facts

Q1129:What are the trinucleotide repeat diseass?

2257

Genetics Flash Facts

Huntington's; myotonic dystrophy; Friedreich's ataxia; Fragile X

2258

Genetics Flash Facts

Q1130:What are the three autosomal trisomies and which chr's are affected?

2259

Genetics Flash Facts

Down's (21); Edward's (18); Patau (13)

2260

Genetics Flash Facts

Q1131:What are the prenatal signs of Down's?

2261

Genetics Flash Facts

decreased a-fetoprotein; increased b-hCG; increased nuchal translucency

2262

Genetics Flash Facts

Q1132:Pts with Down's are at risk of developing what neurological disorder?

2263

Genetics Flash Facts

early-onset Alzheimer's

2264

Genetics Flash Facts

Q1133:95% of Down's cases are due to what problem in meiosis? What is the associated parental "problem"?

2265

Genetics Flash Facts

meiotic nondisjunction of homologous chromosomes; associated with advanced maternal age

2266

Genetics Flash Facts

Q1134:Cri-du-chat is associated with what chromosomal abnormality?

2267

Genetics Flash Facts

congenital deletion of short arm of chr 5

2268

Genetics Flash Facts

Q1135:22q11 syndromes are associted with what signs/symptoms?

2269

Genetics Flash Facts

cleft papate; abnormal facies; thymic aplasia (t-cell deficiency); cardiac defects; hypocalcemia 2' to parathyroid aplasia; variable presentation as DiGeorge

2270

Genetics Flash Facts

Q1136:When are the risks for fetal alcohol syndrome the greatest?

2271

Genetics Flash Facts

3-8 weeks

2272

Genetics Flash Facts

Q1137:What is the #1 cause of congenital malformations in the US?

2273

Genetics Flash Facts

Fetal Alcohol Syndrome

2274

Genetics Flash Facts

Q1138:DNA polymerase III vs I

2275

Genetics Flash Facts

III--5'->3' synthesis; 3'->5' exonuclease (proofread); I-degrades RNA primer (5'->3' exonuclease); fills in gap w/DNA

2276

Genetics Flash Facts

Q1139:nucleotide excision repair vs base excision repair

2277

Genetics Flash Facts

nuc--releases damaged OLIGOnucleotides (ex; in XP); base-specific glycosylases recognize and remove damaged BASES

2278

Genetics Flash Facts

Q1140:alpha-amanitin

2279

Genetics Flash Facts

poison from a mushroom; inhibits euk RNA pol II (mRNA); initially GI problems; rapidly results in death

2280

Genetics Flash Facts

Q1141:different RNAs of the euk RNA polymerases

2281

Genetics Flash Facts

RNA pol I--rRNA; RNA pol ii--mRNA; RNA pol III--tRNA

2282

Genetics Flash Facts

Q1142:mRNA stop codons

2283

Genetics Flash Facts

UGA; UAG; UAA

2284

Genetics Flash Facts

Q1143:site where negative gene expression regulators bind

2285

Genetics Flash Facts

operator

2286

Genetics Flash Facts

Q1144:amino acid binds to which end of tRNA?

2287

Genetics Flash Facts

3' end (CCA end)

2288

Genetics Flash Facts

Q1145:I cell dz

2289

Genetics Flash Facts

failure of addition of mannose-6-phosphate to lysosome enzymes-->enzymes secreted outside cell; get coarse facial features; clouded corneas; restricted jnt movement; high plasma lysosomal enzymes; often fatal in childhood

2290

Genetics Flash Facts

Q1146:vesicular trafficking protein--COPI-->

2291

Genetics Flash Facts

retrograde; Golgi->ER

2292

Genetics Flash Facts

Q1147:vesicular trafficking protein COPII--> ?

2293

Genetics Flash Facts

anterograde; RER->cis-Golgi

2294

Genetics Flash Facts

Q1148:vesicular trafficking protein clathrin--> ?

2295

Genetics Flash Facts

trans-Golig-> lysosome; plasma membrane-> endosomes

2296

Genetics Flash Facts

Q1149:type III collagen

2297

Genetics Flash Facts

reticulin; in skin; blood vessels; uterus; fetal tissue; granulation tissue. Most common type of Ehrlos-Danlers involves this

2298

Genetics Flash Facts

Q1150:type IV collagen found where?

2299

Genetics Flash Facts

basement membrane; basal lamina

2300

Genetics Flash Facts

Q1151:steps of collagen synthesis

2301

Genetics Flash Facts

1. synthesis of preprocollagen (rER); 2. hydroxylation (ER; requires vit C); 3. glycosylation (Golgi); 4. exocytosis (still as procollagen); 5. proteolytic processing (tropocollagen); 6. crosslinking (lysyl oxidase; collagen fibrils)

2302

Genetics Flash Facts

Q1152:which type of osteogenesis imperfecta is fatal in utero or in neonate?

2303

Genetics Flash Facts

type II

2304

Genetics Flash Facts

Q1153:vimentin stains?

2305

Genetics Flash Facts

connective tissue

2306

Genetics Flash Facts

Q1154:desmin stains?

2307

Genetics Flash Facts

muscle

2308

Genetics Flash Facts

Q1155:cytokeratin stains?

2309

Genetics Flash Facts

epithelial cells

2310

Genetics Flash Facts

Q1156:all enzymes except 1 of TCA are WHERE and where/what is the exception?

2311

Genetics Flash Facts

all but succinate DH are in mitochondrial MATRIX; succinate DH is in inner mitochondrial membrane (along with ETC)

2312

Genetics Flash Facts

Q1157:irreversible enzymes in gluconeogenesis (4)

2313

Genetics Flash Facts

pyruvate carboxylase (mit; pyruvate->oxaloacetate); PEP carboxykinase (cyt; oxalo->PEP); F1;6BPase (cyt; F1;6BP>F6P); G6Pase (er; G6P->glucose)

2314

Genetics Flash Facts

Q1158:most potent activator of PFK? (rate limiter of glycolysis)

2315

Genetics Flash Facts

F2;6BP (overrides inhibition by ATP; citrate)

2316

Genetics Flash Facts

Q1159:what are the only purely ketogenic amino acids?

2317

Genetics Flash Facts

lysine; leucine

2318

Genetics Flash Facts

Q1160:how much ATP produced per acetyl CoA in TCA cycle?

2319

Genetics Flash Facts

12 (3/NADH; 2/FADH2; 1/GTP)

2320

Genetics Flash Facts

Q1161:what is rotenone

2321

Genetics Flash Facts

fish poison that complexes with NADH DH (complex I of ETC); NADH accumulates; but can still get electrons into ETC from FADH2

2322

Genetics Flash Facts

Q1162:what is antimycin A?

2323

Genetics Flash Facts

abx that blocks passage of electrons through cytochrome b-c1 complex (ETC)

2324

Genetics Flash Facts

Q1163:why is cyanide poisonous?

2325

Genetics Flash Facts

combines with cytochrome oxidase and blocks electrons->O2 in ETC; (CO does this also)

2326

Genetics Flash Facts

Q1164:what is dinitrophenol (2;4DNP)?

2327

Genetics Flash Facts

ionophore that uncouples ETC

2328

Genetics Flash Facts

Q1165:what is the enzyme of the irrerversible/oxidative reaction of PPP (HMP shunt)?

2329

Genetics Flash Facts

glucose phosphate DH

2330

Genetics Flash Facts

Q1166:what is the enzyme of the reversible/nonoxidative reaction in PPP (HMP shunt)?

2331

Genetics Flash Facts

transketolase (requires thiamine)

2332

Genetics Flash Facts

Q1167:essential fructosuria

2333

Genetics Flash Facts

defect in fructokinase (F->F1P); however; this is benign and asymptomatic; only get fructose in blood and urine

2334

Genetics Flash Facts

Q1168:aldolase B deficiency--> ?

2335

Genetics Flash Facts

(AR) fructose intolerance; F1P accumulates and decreases available phosphate. This inhibits glycogenolysis; gluconeogenesis; get hypoglycemia; jaundice; cirrhosis; vomiting

2336

Genetics Flash Facts

Q1169:which 5 essential amino acids are glucogenic?

2337

Genetics Flash Facts

met; thr; val; arg; his;(Argh; This Here Mnemonic is Vile)

2338

Genetics Flash Facts

Q1170:which essential amino acids are glucogenic and ketogenic?

2339

Genetics Flash Facts

Ile; Phe; Trp

2340

Genetics Flash Facts

Q1171:Phe is precursor for?

2341

Genetics Flash Facts

tyrosine; thyroxine; DOPA; melanin; DA; NE; Epi

2342

Genetics Flash Facts

Q1172:Tryptophan is precursor for?

2343

Genetics Flash Facts

niacin; serotonin; melatonin

2344

Genetics Flash Facts

Q1173:glycine is precursos for?

2345

Genetics Flash Facts

porphyrin; (succinyl CoA+ glycine-> ALA; via ALA synthetase)

2346

Genetics Flash Facts

Q1174:arginine is precursor for?

2347

Genetics Flash Facts

creatine; NO; urea

2348

Genetics Flash Facts

Q1175:glutamate is precursor for?

2349

Genetics Flash Facts

GABA; your mom

2350

Genetics Flash Facts

Q1176:cystinuria is inherited defect for renal transport of which amino acids?

2351

Genetics Flash Facts

cystine; ornithine; lysine; arginine

2352

Genetics Flash Facts

Q1177:which GLUT is insulin responsive?

2353

Genetics Flash Facts

GLUT 4 (adipose; sk mm)

2354

Genetics Flash Facts

Q1178:which GLUT is in RBCs; brain?

2355

Genetics Flash Facts

GLUT 1

2356

Genetics Flash Facts

Q1179:GLUT 2 is where?

2357

Genetics Flash Facts

beta islet cells; liver; kidney

2358

Genetics Flash Facts

Q1180:which enzyme affected in a)Pb poisoning b) AIP c) PCT

2359

Genetics Flash Facts

a)ferrochelatase; ALA dehydrase; b) porphobilinogen deaminase (formerly known as: uroporphyrinogen I synthase); c) uroporphyrinogen decarboxylase

2360

Genetics Flash Facts

Q1181:Full term neonate of uneventful delivery becomes mentally retarded and hyperactive and has musty odor;WHat is the diagnosis

2361

Genetics Flash Facts

PKU

2362

Genetics Flash Facts

Q1182:Stressed executive comes home from work consumes 7 or 8 martinis in rapid succession before dinner and becomes hypoglycemic;WHat is the mechanism

2363

Genetics Flash Facts

NADH increase prevents gluconeogenesis by shunting pyruvate and oxaloacetate to lactate and malate

2364

Genetics Flash Facts

Q1183:2 year old girl has increase in abdominal girth; failure to thrive and skin and hair depigmentation - what is the diagnosis

2365

Genetics Flash Facts

Kwashiorkor

2366

Genetics Flash Facts

Q1184:Alcoholic develops rash; diarrhea and altered mental status;What is the vitamin defficiency

2367

Genetics Flash Facts

B3 (pellagra)

2368

Genetics Flash Facts

Q1185:20 year old male presents with idiopathic hyperbillirubinemia;WHat is the most common cause

2369

Genetics Flash Facts

Gilberts syndrome

2370

Genetics Flash Facts

Q1186:51 year old man has black spots on his sclera and has noted that urine turns black when he is standing

2371

Genetics Flash Facts

Alkaptonuria

2372

Genetics Flash Facts

Q1187:25 year old complains of chest pains and has xanthoma of Achilles tendon;What is his disease and where is the defect

2373

Genetics Flash Facts

Familial hypercholesterolemia; lDL receptor

2374

Genetics Flash Facts

Q1188:Condensed by negatively charged DNA looped twice around positively charged H2a; H2b; H3 and H4 histones (nucleosome bead)

2375

Genetics Flash Facts

Chromatin

2376

Genetics Flash Facts

Q1189:_ ties nucleosomes together in a string (30 nm fiber)

2377

Genetics Flash Facts

H1 histone

2378

Genetics Flash Facts

Q1190:Condensed; transcriptionally inactive chromatin

2379

Genetics Flash Facts

Heterochromatin

2380

Genetics Flash Facts

Q1191:Less condensed; transcriptionally active chromatin

2381

Genetics Flash Facts

Euchromatin

2382

Genetics Flash Facts

Q1192:Name purines

2383

Genetics Flash Facts

A; G;PURe As Gold

2384

Genetics Flash Facts

Q1193:Name pyrimidines

2385

Genetics Flash Facts

C; T; U;CUT Pye

2386

Genetics Flash Facts

Q1194:Which nucleotides have two rings?

2387

Genetics Flash Facts

Purines

2388

Genetics Flash Facts

Q1195:WHich nucleotides have one ring?

2389

Genetics Flash Facts

Pyrimidines

2390

Genetics Flash Facts

Q1196:Which nucleotide has a ketone

2391

Genetics Flash Facts

guanine

2392

Genetics Flash Facts

Q1197:Which nucleotide has methyl

2393

Genetics Flash Facts

thymine

2394

Genetics Flash Facts

Q1198:Deamination of cytosine makes _

2395

Genetics Flash Facts

Uracyl

2396

Genetics Flash Facts

Q1199:Uracil is found in _ ;Thymine is found in _

2397

Genetics Flash Facts

Uracil - RNA;Thymine - DNA

2398

Genetics Flash Facts

Q1200:Which bond is stronger GC or AT

2399

Genetics Flash Facts

GC (3 H bonds); AT is weaker (2 H bonds)

2400

Genetics Flash Facts

Q1201:If GC content is increased what happens to melting temperature

2401

Genetics Flash Facts

Increases

2402

Genetics Flash Facts

Q1202:Nucleotides are linked by _

2403

Genetics Flash Facts

3-5 phosphodiesterase bond

2404

Genetics Flash Facts

Q1203:Substituting purine for purine or pyrimidine for pyrimidine is called ?

2405

Genetics Flash Facts

TransItion (identical)

2406

Genetics Flash Facts

Q1204:Substituting purine for pyrimidine or vice versa

2407

Genetics Flash Facts

TransVersion (conVersion between types)

2408

Genetics Flash Facts

Q1205:4 features of genetic code

2409

Genetics Flash Facts

Unambiguous (each codon for only one amino acid);Degenerate (more then one codon can code for same amino acid);COmmaless; nonoverlapping;Universal

2410

Genetics Flash Facts

Q1206:Name type of mutation - same amino acid; often base change in 3d position of codon tRNA wobble)

2411

Genetics Flash Facts

Silent mutation

2412

Genetics Flash Facts

Q1207:Name type of mutation - changed amino acid (conservative - new amino acid is similar in chemical structure)

2413

Genetics Flash Facts

Missence mutation

2414

Genetics Flash Facts

Q1208:Name type of mutation - change resulting in early stop codon

2415

Genetics Flash Facts

Nonsense mutation

2416

Genetics Flash Facts

Q1209:Name type of mutation - change resulting in misreading of all nucleotides downstream; usually resulting in a truncated protein

2417

Genetics Flash Facts

Frameshift mutation

2418

Genetics Flash Facts

Q1210:In prokaryotic replication; is there single or multiple origins of replication

2419

Genetics Flash Facts

Single origin of replication - continuous DNA synthesis on leading strand and discontinuous (okazaki fragments) on lagging strand

2420

Genetics Flash Facts

Q1211:What is the role of primase in prokaryotic replication

2421

Genetics Flash Facts

Primase makes RNA PRIMER on which DNA polymerase III can initiate replication

2422

Genetics Flash Facts

Q1212:Elongates the chain by adding deoxynucleotides to the 3 end until it reaches primer of preceding fragment

2423

Genetics Flash Facts

DNA polymerase III

2424

Genetics Flash Facts

Q1213:Name enzyme that degrades RNA primer

2425

Genetics Flash Facts

5'-3' exonuclease activity of DNA polymerase I

2426

Genetics Flash Facts

Q1214:Has 5'-3' synthesis and proofreads with 3'-5' exonuclease

2427

Genetics Flash Facts

DNA polymerase III

2428

Genetics Flash Facts

Q1215:Create a nick in the helix to relieve supercoils

2429

Genetics Flash Facts

DNA topoisomerases

2430

Genetics Flash Facts

Q1216:Name DNA repair defects

2431

Genetics Flash Facts

Xeroderma pigmentosum (skin sensitivity to UV light);Ataxia-telangiectasia (x rays);Blooms syndrome (radiation);Fanconis anemia (cross linking agents)

2432

Genetics Flash Facts

Q1217:Defective excision repair such as uvr ABC endonuclease. Results in inability to repair thymidine dimers; which form in DNA when exposed to UV light;Associated with dry skin and with melanoma and other cancers;Inheritance pattern

2433

Genetics Flash Facts

Xeroderma pigmentosum;Autosomal recessive

2434

Genetics Flash Facts

Q1218:In which direction is Dna and RNA synthesized

2435

Genetics Flash Facts

5'-->3'

2436

Genetics Flash Facts

Q1219:Chromatin Structure

2437

Genetics Flash Facts

negatively charged DNA wrapped around a histone (H2A; H2B; H3; H4); connected by H1;Condensed = hetero-; inactive;Less condensed = eu-; active

2438

Genetics Flash Facts

Q1220:Nucleotides

2439

Genetics Flash Facts

Purines (A; G) large rings;Pyrimidines (C; U; T) small rings;PURe As Gold;CUT the PY (pie)

2440

Genetics Flash Facts

Q1221:Eukaryotic DNA polymerases

2441

Genetics Flash Facts

alpha - replicates lagging strand; synthesizes RNA primer;beta - repairs DNA;gamma - replicates mitochondrial DNA;delta - replicates leading strand;epsilon - repairs DNA

2442

Genetics Flash Facts

Q1222:DNA repair process

2443

Genetics Flash Facts

endonuclease cleaves strand upstream;exonuclease clease strand downstream;DNA polymerase Beta fills gap

2444

Genetics Flash Facts

Q1223:DNA repair defects lead to disease

2445

Genetics Flash Facts

Xeroderma Pigmentosum (UV light);Ataxia-Telangiectasia (Xrays) ;Bloom's syndrome (radiation);Fanconi's anemia (crosslinking agents)

2446

Genetics Flash Facts

Q1224:Eukaryotic RNA polymerases

2447

Genetics Flash Facts

polymerase I - rRNA;polymerase II - mRNA; snRNPs;polymerase III - tRNA;no proofreading;alphaamanitin inhibits poly II

2448

Genetics Flash Facts

Q1225:Start and Stop Codons

2449

Genetics Flash Facts

Start;AUG (Are U Going?);Stop;UGA (U Go Away);UAA (U Are Away);UAG (U Are Gone)

2450

Genetics Flash Facts

Q1226:Regulation of Gene Expression

2451

Genetics Flash Facts

Promoter - where RNA polymerase/transcription factors bind upstream;TATA (25 bp upstream);CAAT (70 bp upstream);Enchancer - where transcription factors bind to increase expression

2452

Genetics Flash Facts

Q1227:RNA processing

2453

Genetics Flash Facts

1. 5' 7-methyl-guanine cap;stability; mediates translation;2. 3' Polyadenylation;stability; mediates nuclear export;3. Splicing out introns;for fun?

2454

Genetics Flash Facts

Q1228:tRNA Structure

2455

Genetics Flash Facts

75-90 nucleotides;anticodon end is opposite 3' aminoacyl ;3' CCA sequence;chemically modified bases

2456

Genetics Flash Facts

Q1229:tRNA charging

2457

Genetics Flash Facts

aminoacyl-tRNA synthetase ;adds 1 aa to 3' end; using 1 ATP;proofreading capability

2458

Genetics Flash Facts

Q1230:tRNA wobble

2459

Genetics Flash Facts

allows many codons to match one tRNA with only the first two bases of it's anticodon

2460

Genetics Flash Facts

Q1231:PCR

2461

Genetics Flash Facts

ligate/denature DNA;add premade specific probes;add heatstable DNA polymerase;repeat until DNA sequence is amplified

2462

Genetics Flash Facts

Q1232:Molecular Biology Techniques

2463

Genetics Flash Facts

Southern - DNA probe to find DNA;Northern - DNA probe to find RNA;Western - Ab probe to find protein;Southwestern - DNA probe for TFs

2464

Genetics Flash Facts

Q1233:ELISA

2465

Genetics Flash Facts

labeled Ab/Ag to Ag/Ab in pt sample;used in HIV;Sn = Sp = ~100%

2466

Genetics Flash Facts

Q1234:Inheritance Modes

2467

Genetics Flash Facts

Auto Dom - structural genes;M/F affected equally;presents after puberty;Auto Rec - 25% offspring of carriers;enzyme deficiencies;present in childhood;X-link Rec - 50% sons of hetero mom;X-link Dom - all F kids of sick dad ;M/F kids of sick mom;hypophosphatemic rickets;Mitochondrial transmitted by mom;all kids may show dz;leber's hereditary optic neuropathy;mitchondrial myopathies
2468

Genetics Flash Facts

Q1235:Variable expression

2469

Genetics Flash Facts

nature and severity of phenotype varies from one pt to another

2470

Genetics Flash Facts

Q1236:Incomplete penetrance

2471

Genetics Flash Facts

Not all individuals with mutant genotype show dz phenotype

2472

Genetics Flash Facts

Q1237:Pleiotropy

2473

Genetics Flash Facts

one gene has greater than one effect on phenotype

2474

Genetics Flash Facts

Q1238:Imprinting

2475

Genetics Flash Facts

Differences in phenotype depend on whether the mutation is of maternal or paternal origin;Angelmans - maternal transmission;Prader-Willi - paternal transmission

2476

Genetics Flash Facts

Q1239:Anticipation

2477

Genetics Flash Facts

Severity of disease worsens or age of onset decreases in successive generations

2478

Genetics Flash Facts

Q1240:Loss of heterozygosity

2479

Genetics Flash Facts

if a pt inherits or develops a mutation in a tumor suppressor gene; the complementary allele must be deleted/mutated before cancer develops (not true of oncogenes)

2480

Genetics Flash Facts

Q1241:Dominant negative mutation

2481

Genetics Flash Facts

exerts a dominant effect because the body cannot produce enough of the normal gene product with only one functioning allele or presence of the altered gene product inhibits the normal product

2482

Genetics Flash Facts

Q1242:Linkage disequilibrium

2483

Genetics Flash Facts

two alleles at linked loci occur together more often than probability would suggest.

2484

Genetics Flash Facts

Q1243:Hardy Weinberg population genetics

2485

Genetics Flash Facts

assumes no migration; no mutation; no natural selection; no mating preferences

2486

Genetics Flash Facts

Q1244:Down Syndrome

2487

Genetics Flash Facts

mental and growth retardation;trisomy 21;tested with karyotyping;1:800;increased risk with maternal age;decreased AFP in amniotic fluid;polyhydramnios

2488

Genetics Flash Facts

Q1245:Fragile X

2489

Genetics Flash Facts

mental retardation;characteristic facial features;large testes;Xlinked;failure to express RNA binding protein

2490

Genetics Flash Facts

Q1246:Sickle cell anemia

2491

Genetics Flash Facts

recurrent painful crises;autosplenectomy -> imm def;autosomal recessive;1 missense mutation in beta globin;1:400 Af-Am

2492

Genetics Flash Facts

Q1247:Cystic fibrosis

2493

Genetics Flash Facts

recurrent pulmonary infections;exocrine pancreas insufficiency;infertility;autosomal recessive;mutated CFTR (Cl- channel);1/2000 whites

2494

Genetics Flash Facts

Q1248:Neurofibromatosis

2495

Genetics Flash Facts

cafe-au-lait spots;neurofibromas;pheochromocytomas;autosomal dominant;signaling molec loss-of-fxn mutations

2496

Genetics Flash Facts

Q1249:Duchenne's Muscular Dystrophy

2497

Genetics Flash Facts

muscular weakness and degeneration;X-linked recessive;dystrophin gene deletion;Dx DNA test;pseudohypertrophy of calf

2498

Genetics Flash Facts

Q1250:Osteogenesis Imperfecta

2499

Genetics Flash Facts

increased bone fx;blue sclera - translucent CT over choroid;many mutations - abn collagen synth;1:10000

2500

Genetics Flash Facts

Q1251:Phenylketonuria

2501

Genetics Flash Facts

autosomal recessive;phenylalanine hydroxylase deficiency;tetrahydrobiopterin cofactor deficiency;tyrosine becomes essential;mental retardation;fair skin (decreased melanin);eczema;musty body odor;decrease phenylalanine in diet;increase tyrosine in diet

2502

Genetics Flash Facts

Q1252:Fabry's disease

2503

Genetics Flash Facts

X-linked recessive;alpha galactosidase deficiency;ceramide trihexoside accumulation;renal failure;peripheral neuropathy hands/feet;CV disease

2504

Genetics Flash Facts

Q1253:Krabbe's disease

2505

Genetics Flash Facts

Autosomal recessive;Bgalactosidase def;galactocerebroside accumulation;optic atrophy;peripheral neuropathy/spasticity;developmental delay

2506

Genetics Flash Facts

Q1254:Gaucher's disease

2507

Genetics Flash Facts

glucocerebrosidase def;glucocerebroside accumulation;hepatosplenomegaly;aseptic necrosis of femoral head;bone crises;Gaucher's cells (macrophages)

2508

Genetics Flash Facts

Q1255:Niemann-Pick disease

2509

Genetics Flash Facts

Autosomal recessive;sphingomyelinase def;sphingomyelin accum in reticuloendothelial cells/parenchyma;leading to organomegaly and progressive neurodegeneration;cherry red spot on macula;No Man PICKs his nose w/ a SPHINGer

2510

Genetics Flash Facts

Q1256:Tay-Sachs disease

2511

Genetics Flash Facts

Autosomal recessive;Absence of hexosaminidase A;GM2 ganglioside accumulation;Askenazi Jews (carriers = 1/30);death by age 3;cherry red spot on macula

2512

Genetics Flash Facts

Q1257:Metachromatic Leukodystrophy

2513

Genetics Flash Facts

Autosomal recessive;arylsulfatase A deficiency;demyelination with w/ ataxia; dementia;Cerebroside sulfate in brain; liver; kidney; PNS

2514

Genetics Flash Facts

Q1258:Hurler's syndrome

2515

Genetics Flash Facts

Autosomal recessive;alpha-L-iduronidase deficiency;corneal clouding;gargoylism;developmental delay;Hurlers (shot put) do more damage than hunters (arrows)

2516

Genetics Flash Facts

Q1259:Hunter's syndrome

2517

Genetics Flash Facts

X-linked recessive;iduronate sulfatase deficiency;mild form of Hurler's (mild retardation);with aggressive behavior;no corneal clouding

2518

Genetics Flash Facts

Q1260:Lineweaver Burke plots

2519

Genetics Flash Facts

noncompetitive inhibitors change the Vmax (the y-intercept will increase);competitive inhibitors change the Km (the xintercept will increase)

2520

Genetics Flash Facts

Q1261:Sodium Potassium Pump

2521

Genetics Flash Facts

BL membrane;moves 3 Na out; 2 K in; uses 1 ATP;inhibitied by oubain; digoxin

2522

Genetics Flash Facts

Q1262:Collagen synthesis and structure

2523

Genetics Flash Facts

hydoxylation of proline/lysine residues in RER requires Vit C;procollagen exocytosed into ECM;peptidases cleave terminal portion;self-assembly into collagen fibrils;crosslinked by lysyl oxydase

2524

Genetics Flash Facts

Q1263:Ehlers-Danlos Syndrome

2525

Genetics Flash Facts

faulty collagen synthesis causes;hyperextensible skin;tendency to bleed;hypermobile joints

2526

Genetics Flash Facts

Q1264:S-adenosyl methionine

2527

Genetics Flash Facts

ATP + methionine = SAM;methyl group donor;makes phosphocreatine;regeneration with B12

2528

Genetics Flash Facts

Q1265:NAD+/NADPH

2529

Genetics Flash Facts

NAD+ catabolic electron acceptor;NADPH anabolic electron donor;product of HMP shunt;makes superoxide;regenerates GSH;p450

2530

Genetics Flash Facts

Q1266:Glycolysis: irreversible reactions

2531

Genetics Flash Facts

glu to G6P;G6P inhibits hexokinase;F6P to F1;6BP;ATP/citrate inhib PFK ;F2;6BP/AMP upreg PFK;PEP to pyruvate;ATP/Ala inhib Pyr Kinase;F1;6BP upreg Pyr Kinase;Pyr to AcetylCoA;ATP/NADH/AcylCoA inhib Pyr DeH

2532

Genetics Flash Facts

Q1267:Pyruvate Dehydrogenase Complex

2533

Genetics Flash Facts

pyr + NAD+ + CoA -> ;AcylCoA + CO2 +NADH;3 enzymes;5 cofactors;B1 thiamine;B2 FAD;B3 NAD;B5 CoA;lipoic acid

2534

Genetics Flash Facts

Q1268:Pyruvate Dehydrogenase Deficiency

2535

Genetics Flash Facts

buildup of pyruvate and alanine;reduced to lactate -> acidosis;seen in alcoholics in B1 deficiency;Rx: high fat/ketogenic nutrients

2536

Genetics Flash Facts

Q1269:Cori cycle

2537

Genetics Flash Facts

shuttles lactate from muscle to liver for regeneration to pyruvate;allows muscles to fxn anaerobically

2538

Genetics Flash Facts

Q1270:TCA cycle

2539

Genetics Flash Facts

12 ATP/Acyl CoA;24 ATP/glu molec;1st four enzymes are inhib by ATP/NADH;Cindy Is Kind So She's Friendly More Often

2540

Genetics Flash Facts

Q1271:Gluconeogenesis: irreversible reactions

2541

Genetics Flash Facts

Pyr to oxaloacetate;Pyr carb req ATP/AcylCoA/biotin;Oxaloacetate to PEP;PEP carbK req GTP;F1;6BP to F6P;F1;6BPase;G6P to glu;G6Pase;enzymes in liver; kidney; intestine;hypogly with G6Pase def (von Gierke's)

2542

Genetics Flash Facts

Q1272:Glucose 6 Phosphate Dehydrogenase Deficiency

2543

Genetics Flash Facts

rate limiting enzyme of HMP shunt;necessary for RBCs to produce NADPH for GSH regeneration;loss leads to hemolytic anemia;triggered w/ oxidizing agents: sulfas; primaquine; fava beans;Heinz bodies - Hb precipitates;prevalent in Af-Am;X-linked recessive

2544

Genetics Flash Facts

Q1273:Fructose intolerance

2545

Genetics Flash Facts

aldolase B deficiency;all phosphate accum in F1P;inhib glycogenolysis/gluconeogenesis;hypoglycemia; jaundice; cirrhosis;Rx: decrease fructose/sucrose

2546

Genetics Flash Facts

Q1274:Galactose intolerance

2547

Genetics Flash Facts

galactose-1P uridyltransferase def;accum of toxic metabolites;cataracts;hepatosplenomegaly;mental retardation;Rx: decrease galactose/lactose

2548

Genetics Flash Facts

Q1275:Essential Amino Acids

2549

Genetics Flash Facts

PVT TIM HALL;phe;val;trp;thr;ile;met;his;arg;leu;lys

2550

Genetics Flash Facts

Q1276:Urea Cycle

2551

Genetics Flash Facts

C from CO2 (mitochondria);N from NH4 (mitochondria);N from aspartate (cytosol)

2552

Genetics Flash Facts

Q1277:Phenylalanine derivatives

2553

Genetics Flash Facts

Tyrosine; Dopa; DA; NE; Epi; Melanin; Thyroxine

2554

Genetics Flash Facts

Q1278:Tryptophan derivatives

2555

Genetics Flash Facts

Niacin (NAD; NADP);Serotonin;Melatonin

2556

Genetics Flash Facts

Q1279:Histidine derivatives

2557

Genetics Flash Facts

Histamine

2558

Genetics Flash Facts

Q1280:Glycine derivatives

2559

Genetics Flash Facts

Porphyrin/Heme

2560

Genetics Flash Facts

Q1281:Arginine derivatives

2561

Genetics Flash Facts

Creatine;Urea;Nitric Oxide

2562

Genetics Flash Facts

Q1282:Homocytinuria

2563

Genetics Flash Facts

defective cystathionine synthase or;defective methionine synthase;cysteine become essential;mental retardation;osteoporosis;lens subluxation;tall stature;kyphosis

2564

Genetics Flash Facts

Q1283:Maple Syrup Urine Disease

2565

Genetics Flash Facts

alpha ketoacid dehydrogenase def blocked degradation of branched aa (Ile; Leu; Val = I Love Vt maple syrup);CNS defects; mental retardation; death

2566

Genetics Flash Facts

Q1284:Adenosine Deaminase Definiciency

2567

Genetics Flash Facts

SCID;Excess dATP prevents production of other deoxyribose nucleotides via ribonucleotide reductase;-> lymphopenia

2568

Genetics Flash Facts

Q1285:Lesch-Nyhan Syndrome

2569

Genetics Flash Facts

X-linked recessive;LNS (Lacks Nucleotide Salvage);HGPRT deficiency -> dec IMP/GMP prod -> inc uric acid excr;retardation;self-mutilation;aggression;hyperuricemia; gout; choreoathetosis

2570

Genetics Flash Facts

Q1286:Fatty Acid Metabolism

2571

Genetics Flash Facts

Synthesis = cytosol;enters via citrate shuttle;degradation = mitochondria;enters via carnitine shuttle

2572

Genetics Flash Facts

Q1287:von Gierke's disease

2573

Genetics Flash Facts

Glycogen storage disease type I;glucose-6Pase deficiency;(liver becomes like muscle);severe fasting hypoglycemia;glycogen accum in liver;Very

2574

Genetics Flash Facts

Q1288:Pompe's disease

2575

Genetics Flash Facts

Glycogen storage disease type II (trashes the pump);lysomal alpha-1;4-glucosidase def;cardiomegaly;early death;Poor

2576

Genetics Flash Facts

Q1289:Cori's Disease

2577

Genetics Flash Facts

Glycogen storage disease type III;deficiency of debranching enzyme;alpha-1;6-glucosidase;Carbohydrate

2578

Genetics Flash Facts

Q1290:Glycogen storage disease type V

2579

Genetics Flash Facts

McArdle's disease;muscle glycogen phosphorylase def;glycogen in musc -> painful cramps;myoglobinuria w/ strenuous exercise;Metabolism

2580

Genetics Flash Facts

Q1291:Ketone bodies

2581

Genetics Flash Facts

acetoacetate and betahydroxybutyrate;made in liver from HMG-CoA;excr in urine (test for acetoacetate);elevated in starvation/DM ketoacidosis;fruity breath;converted to 2 AcetylCoA in brain

2582

Genetics Flash Facts

Q1292:Insulin

2583

Genetics Flash Facts

from pancreatic beta cells;inc glu uptake in musc/liver/fat;GLUT2 R in beta cells;GLUT4 in periphery;inhib glucagon from alpha cells;C-peptide cleaved > activation

2584

Genetics Flash Facts

Q1293:Glucagon vs. Insulin

2585

Genetics Flash Facts

Glucagon phosphorylates;turns OFF glycogen synthase;turns ON glycogen phosphorylase;Insulin dephosphorylates;turns ON glycagen synthase;turns OFF glycagen phosphorylase

2586

Genetics Flash Facts

Q1294:Cholesterol synthesis and esterification

2587

Genetics Flash Facts

HMG-CoA reductase is the rate limiting enzyme in synthesis;inhib by Lovastatin ;Esterification via LCAT

2588

Genetics Flash Facts

Q1295:Chylomicrons

2589

Genetics Flash Facts

dietary TGs to peripheral tissues; dietary chol to liver;travel in lymphatics to thoracic duct to blood;excess -> xanthomas;Apo B48 mediates excretion;Apo CII for lipoprotein lipase;Apo E mediates liver uptake

2590

Genetics Flash Facts

Q1296:VLDL

2591

Genetics Flash Facts

hepatic TGs to periphery;excess causes pancreatitis;apo B100 mediates secr;apo CII for lipoportein lipase;apo E mediates liver uptake

2592

Genetics Flash Facts

Q1297:LDL

2593

Genetics Flash Facts

produced via VLDL modification;hepatic cholesterol to periphery;uptake via R-med endocytosis (Apo B100);excess causes ATH; xanthomas;Bad for you

2594

Genetics Flash Facts

Q1298:HDL

2595

Genetics Flash Facts

periphery cholesterol to liver;repository for Apo C/E;Apo A1 for LCAT & chol-esters;Good for you

2596

Genetics Flash Facts

Q1299:Familial Hypercholesterolemia

2597

Genetics Flash Facts

Increased Cholesterol/LDL;Auto Dom defect in LDL R;xanthomas;MI before 30y in homozygous pt

2598

Genetics Flash Facts

Q1300:Familial Hypertriglyceridemia

2599

Genetics Flash Facts

Increased TGs/VLDL;Hepatic overproduction of VLDL

2600

Genetics Flash Facts

Q1301:Heme Synthesis

2601

Genetics Flash Facts

Rate limiting step: glycine + succinyl CoA -> ALA via ALA synthase;occurs w/in mitochondria;inhibition -> porphyrias;Pb inhib other enzymes -> microcytic/hypochromic anemia and porphyria

2602

Genetics Flash Facts

Q1302:Heme catabolism

2603

Genetics Flash Facts

scavenged from RBCs;heme -> biliverdin -> bilirubin;bilirubin excr in bile;converted to urobilinogen;excreted as urobilin in urine

2604

Genetics Flash Facts

Q1303:Methemoglobinemia

2605

Genetics Flash Facts

Fe in ferric (oxidized) state;low O2 affinity

2606

Genetics Flash Facts

Q1304:Hb structure/affinity

2607

Genetics Flash Facts

Cl; H; CO2; DPG; heat favor the T (taut) form over R (relaxed);causes decreased O2 affinity

2608

Genetics Flash Facts

Q1305:Vitamin A

2609

Genetics Flash Facts

Retinol; in retinal pigment;deficiency: night blindness; dry skin

2610

Genetics Flash Facts

Q1306:Vitamin B1

2611

Genetics Flash Facts

Thiamine; cofactor in pyruvate carboxylase ;deficiency: Beriberi and Wernicke's encephalopathy

2612

Genetics Flash Facts

Q1307:Vitamin B2

2613

Genetics Flash Facts

Riboflavin; FAD/FADH2;deficiency: corneal vascularization; cheilosis

2614

Genetics Flash Facts

Q1308:Vitamin B3

2615

Genetics Flash Facts

Niacin; NAD/NADH (from Trp);deficiency: Pellagra;caused by carcinoid syndrome; INH; Hartnup Dz;Diarrhea; Dermatitis; Dememtia

2616

Genetics Flash Facts

Q1309:Vitamin B5

2617

Genetics Flash Facts

Pantothenate -> Coenzyme A;FA synth; Kreb's Cycle;deficiency: Dermatitis; Enteritis; Alopecia; adrenal insufficiency

2618

Genetics Flash Facts

Q1310:Vitamin B6

2619

Genetics Flash Facts

Pyridoxine;Converted to Pyridoxal Phosphate;cofactor in transamination (ALT/AST)

2620

Genetics Flash Facts

Q1311:Biotin

2621

Genetics Flash Facts

cofactor for carboxylation;1. pyruvate -> oxaloacetate;2. acetyl CoA -> malonyl CoA;3. proprionyl CoA -> methylmalonyl CoA

2622

Genetics Flash Facts

Q1312:Folic Acid

2623

Genetics Flash Facts

Coenzyme for 1-C transfer;methylation rxns for nitrogenous bases;most common vitamin deficiency in US: macrocytic; megaloblastic anemia

2624

Genetics Flash Facts

Q1313:Vitamin B12

2625

Genetics Flash Facts

Cobalamin;Cofactor for homocyteine methylation & methylmalyonyl handling;Stored in liver;deficiency caused by: malabsorption (sprue; enteritis; diphyllobothrium latum); pernicious anemia; ileectomy;Dx: Schilling test

2626

Genetics Flash Facts

Q1314:Vitamin C

2627

Genetics Flash Facts

Ascorbic Acid;cofactor for hydroxylation of proline/lysine in collagen;facilitates Fe adsorption by keeping it reduced;Deficiency: scurvy = swollen gums; bruising; poor healing

2628

Genetics Flash Facts

Q1315:Vitamin D

2629

Genetics Flash Facts

D2 absorbed from gut;D3 formed in skin;25OH D3 storage form;1;25OH D3 active form;increases Ca/PO4 absorption;deficiency: rickets; osteomalacia; hypoCa tetany;excess: hyperCa; stupor;caused by sarcoidosis mphages producing active D3

2630

Genetics Flash Facts

Q1316:Vitamin E

2631

Genetics Flash Facts

antioxidant protects RBCs against hemolysis;increased fragility of RBCs

2632

Genetics Flash Facts

Q1317:Vitamin K

2633

Genetics Flash Facts

synthesis of clotting factors II; VII; IX; X and Proteins C/S;synth'd by intestinal flora;deficiency seen in broadspectrum ABx; warfarin use;inc PT; PTT; INR;Neonatal hemorrhage

2634

Genetics Flash Facts

Q1318:Ethanol Metabolism

2635

Genetics Flash Facts

alcohol and acetaldehyde dehydrogenase produce NADH and acetate;excess NADH shunts pyruvate away from gluconeogenesis to lactate;leads to hypoglycemia and FA synth (fatty liver)

2636

Genetics Flash Facts

Q1319:Where does calcitonin work?

2637

Genetics Flash Facts

Osteoclast inhibits bone reabsorption

2638

Genetics Flash Facts

Q1320:What receptor does PTH hook on?

2639

Genetics Flash Facts

Osteoblast

2640

Genetics Flash Facts

Q1321:What does PTH releases?

2641

Genetics Flash Facts

IL-1 Osteoclast activating factor

2642

Genetics Flash Facts

Q1322:What keeps a check on IL-1?

2643

Genetics Flash Facts

Testosteron and Estrogen

2644

Genetics Flash Facts

Q1323:Why do women get osteoporosis?

2645

Genetics Flash Facts

Menopausal Women; breaking bone down since IL-1 is not checked

2646

Genetics Flash Facts

Q1324:What enzyme is in the S.E.R. when you have increase P-450?

2647

Genetics Flash Facts

Gamma-glutamyl transferase;- key tests for alcoholics

2648

Genetics Flash Facts

Q1325:Why does renal dz causes vitamin D deficiency? Caused by Diabetes Mellitus

2649

Genetics Flash Facts

no alpha-1-hydroxylase

2650

Genetics Flash Facts

Q1326:Vitamin D from the store; what happens to it before it becomes activate?

2651

Genetics Flash Facts

25-OH D activated in the liver;- 1;25 OH D in kidneys by alpha-hydroxylase

2652

Genetics Flash Facts

Q1327:Hypervitaminosis D? What happens?

2653

Genetics Flash Facts

Increase Calcium (hypercalcemia); more Calcium in urine causing Stones.

2654

Genetics Flash Facts

Q1328:Type I Vitamin D is what?

2655

Genetics Flash Facts

Missing alpah-1-hydroxylase

2656

Genetics Flash Facts

Q1329:What is wrong with Type II Vitamin D deficiency?

2657

Genetics Flash Facts

Bad receptors

2658

Genetics Flash Facts

Q1330:What is vitamin E main fuction?

2659

Genetics Flash Facts

- Prevent lipid peroxidation of cell membranes;- protect membrane from breaking down by phospholipid A;neutralizes oxidis LDL (makes it less injurious); i.e. cardioprotective

2660

Genetics Flash Facts

Q1331:Who gets Vitamine E deficiency?

2661

Genetics Flash Facts

Cystic Fibrosis Patients

2662

Genetics Flash Facts

Q1332:Does vitamin E deficiency cause hemolytic anemia?

2663

Genetics Flash Facts

Yes! Susceptible to membrane damage (radical)

2664

Genetics Flash Facts

Q1333:Does vitamin E help myelin?

2665

Genetics Flash Facts

Yes! Problems neurologicly since they disrupt the membranes in the brain. Spinalcerebellar Dz

2666

Genetics Flash Facts

Q1334:What vitamin enhances the activity of warfarin?

2667

Genetics Flash Facts

Vitamin E excess!

2668

Genetics Flash Facts

Q1335:What changes k2(inactive) to k1?

2669

Genetics Flash Facts

epoxide reductase ;k1 gamma carboxylates activates factors II; VII; IX; X;hydroxylates proline and lisine;activates them so they are fucntional

2670

Genetics Flash Facts

Q1336:Warfarin does what?

2671

Genetics Flash Facts

Blocks epoxide reductase; all vitamin K is K2 (inactive)

2672

Genetics Flash Facts

Q1337:Vitamine K deficiency?

2673

Genetics Flash Facts

Prolong Antibiotics;Poor Diets;New Borns

2674

Genetics Flash Facts

Q1338:What amino acids stimulate Growth Hormone (GH)?

2675

Genetics Flash Facts

Arganine and Histidine(Ornithine)

2676

Genetics Flash Facts

Q1339:Symptoms of hypocortisolism?

2677

Genetics Flash Facts

fasting hypoglycemia and fatigue;ACTH low;Corisol Low

2678

Genetics Flash Facts

Q1340:Central Diabetes Insipidus;Causes?

2679

Genetics Flash Facts

Car accident

2680

Genetics Flash Facts

Q1341:Where is it made?

2681

Genetics Flash Facts

Superoptic/Paraventricular Nucleus of hypothalamus

2682

Genetics Flash Facts

Q1342:Where is ADH stored?

2683

Genetics Flash Facts

Vassopressin (ADH) is stored in the posterior hypofisis

2684

Genetics Flash Facts

Q1343:Signs and Symptoms of SIADH?

2685

Genetics Flash Facts

-Thrist (polydypsia);- polyuria

2686

Genetics Flash Facts

Q1344:Mechanisms of polyuria in DM?

2687

Genetics Flash Facts

Osmotic Diuresis

2688

Genetics Flash Facts

Q1345:Where is HMG CoA Synthase seen?

2689

Genetics Flash Facts

Ketogenesis;Acetyl CoA ----> HMG CoA

2690

Genetics Flash Facts

Q1346:What is involved in ketogenolysis (extrahepatic)?

2691

Genetics Flash Facts

Hydroxybutyrate ----> Acetoacetate ---> Acetoacetyl CoA ---> Acetyl CoA ----> Citric Acid Cycle

2692

Genetics Flash Facts

Q1347:What is perceived as fruity odor?

2693

Genetics Flash Facts

Acetone in the blood;Seen in prolonged fasting

2694

Genetics Flash Facts

Q1348:What amino acid is used in starvation?

2695

Genetics Flash Facts

Alanine

2696

Genetics Flash Facts

Q1349:How long does glycogen storages last when you are fasting?

2697

Genetics Flash Facts

24 hours

2698

Genetics Flash Facts

Q1350:When does protein degradation start?

2699

Genetics Flash Facts

after 12-24 hours

2700

Genetics Flash Facts

Q1351:How many days does it take for fat to become the predominant source of glucose?

2701

Genetics Flash Facts

1 week is the breaking point

2702

Genetics Flash Facts

Q1352:When is the highest fat source for glucose? Week? When are ketones at the highest level?

2703

Genetics Flash Facts

After the 3rd week

2704

Genetics Flash Facts

Q1353:G6PDH;Reactant and product

2705

Genetics Flash Facts

Reactant: Glucose-6-P;Product: 6-phosphogluconate

2706

Genetics Flash Facts

Q1354:G6PDH;cofactor

2707

Genetics Flash Facts

NADP;(rxn: NADP ---> NADPH)

2708

Genetics Flash Facts

Q1355:G6PDH;part of what pathway?

2709

Genetics Flash Facts

Hexose monophosphate shunt

2710

Genetics Flash Facts

Q1356:G6PDH;induced by

2711

Genetics Flash Facts

insulin

2712

Genetics Flash Facts

Q1357:G6PDH;activated by

2713

Genetics Flash Facts

NADP (decrease in NADPH/NADP ratio)

2714

Genetics Flash Facts

Q1358:G6PDH deficiency;inheritence

2715

Genetics Flash Facts

XLR

2716

Genetics Flash Facts

Q1359:G6PDH;major function

2717

Genetics Flash Facts

Generate NADPH for anabolic purposes (EG: FA synthesis); antimicrobial killing and protection of cells from reactive oxygen species

2718

Genetics Flash Facts

Q1360:Describe the role of NADPH in protecting against ROS (particularly in RBCs)

2719

Genetics Flash Facts

NADPH reduces oxidized Glutathionine (G-S-S-G) back to its reduced form (2 GSH). GSH allows the enzyme Glutathionine peroxidase to breakdown H202

2720

Genetics Flash Facts

Q1361:G6PDH deficiency;3 key features

2721

Genetics Flash Facts

-immunodeficiency (in severe disease);- Heinz bodies;hemolytic anemia

2722

Genetics Flash Facts

Q1362:G6PDH deficiency;stressors that can acute hemolytic anemia

2723

Genetics Flash Facts

-ifn;-drugs (sulfas; chloroquine);-fava beans

2724

Genetics Flash Facts

Q1363:G6PDH deficiency;Why can this condition lead to immunodeficiency?

2725

Genetics Flash Facts

NAPDH oxidase generates bactericidal superoxide. NADPH deficiency inhibits this function.

2726

Genetics Flash Facts

Q1364:CGD/NADPH deficiency;How can the diagnosis be confirmed

2727

Genetics Flash Facts

a NEGATIVE nitroblue tetrazolium test

2728

Genetics Flash Facts

Q1365:HMG CoA reductase;location

2729

Genetics Flash Facts

ER

2730

Genetics Flash Facts

Q1366:HMG CoA reductase;activated by?

2731

Genetics Flash Facts

insulin

2732

Genetics Flash Facts

Q1367:HMG CoA reductase;;enzyme ACTIVITY is inhibited by

2733

Genetics Flash Facts

-glucagon;-statins

2734

Genetics Flash Facts

Q1368:HMG CoA reductase;reaction

2735

Genetics Flash Facts

HMG-CoA is converted to mevalonate

2736

Genetics Flash Facts

Q1369:HMG CoA reductase;cholesterol effect on the enzyme

2737

Genetics Flash Facts

Increased hepatic cholesterol represses expression and enhances degradation

2738

Genetics Flash Facts

Q1370:HMG CoA reductase;How does inhibition by statin drugs decrease cholesterol levels?

2739

Genetics Flash Facts

Inhibition by statins both decreases de novo synthesis and enhances hepatic clearence of serum cholesterol by increased LDLR expression

2740

Genetics Flash Facts

Q1371:HMG CoA reductase;statins are _________ inhibitors

2741

Genetics Flash Facts

competitive

2742

Genetics Flash Facts

Q1372:DHFR;reaction it catalyzes

2743

Genetics Flash Facts

Folate---->DHF--->THF

2744

Genetics Flash Facts

Q1373:DHFR;eukaryotic inhibitior

2745

Genetics Flash Facts

methotrexate

2746

Genetics Flash Facts

Q1374:DHFR;prokaryotic inhibitors (2)

2747

Genetics Flash Facts

-Trimethoprim;-pyrimethamine

2748

Genetics Flash Facts

Q1375:DHFR;Most important downstream consequence of inhibition?

2749

Genetics Flash Facts

A block of DHFR function ultimately prevent synthesis of thymidylate (thymidylate synthase is folate dependent)

2750

Genetics Flash Facts

Q1376:how can ornithine transcarbamylase deficiency be distinguished from orotic aciduria

2751

Genetics Flash Facts

OTCD has hyperammonia and low BUN;Orotic aciduria has a normal BUN

2752

Genetics Flash Facts

Q1377:Orotic Aciduria;enzymatic causes

2753

Genetics Flash Facts

- orotic acid phosphoribosyltransferase deficiency;OR;- OMP decarboxylase deficiency

2754

Genetics Flash Facts

Q1378:UDP-Glucuronyl transferase;key reaction

2755

Genetics Flash Facts

Bilirubin + glucoronide ----> bilirubin-diglucoronide

2756

Genetics Flash Facts

Q1379:UDP-Glucuronyl transferase;significance in neonates

2757

Genetics Flash Facts

UDP-Glucuronyl transferase is the last enzyme expressed in infants. Thus; neonates have increased susceptibility to jaundice and kernicterus

2758

Genetics Flash Facts

Q1380:Dubin-Johnson syndrome;characterized by

2759

Genetics Flash Facts

black pigment in the liver due to impaired excretion of direct bilirubin

2760

Genetics Flash Facts

Q1381:Crigler-Najjar syndrome;define

2761

Genetics Flash Facts

a severe UDP-Glucuronyl transferase deficiency

2762

Genetics Flash Facts

Q1382:Gilbert Syndrome;define

2763

Genetics Flash Facts

a benign UDP-Glucuronyl transferase deficiency

2764

Genetics Flash Facts

Q1383:gamma-glutamyl carboxylase;rxn:

2765

Genetics Flash Facts

glu -----> gamma gultamic acid

2766

Genetics Flash Facts

Q1384:gamma-glutamyl carboxylase;function and substrate of this rxn:

2767

Genetics Flash Facts

gamma carboxylation of factors II; VII; IX; X and Protein C&S generates Ca binding sites.

2768

Genetics Flash Facts

Q1385:gamma-glutamyl carboxylase;dependent on?

2769

Genetics Flash Facts

vit K

2770

Genetics Flash Facts

Q1386:gamma-glutamyl carboxylase;inhibited by

2771

Genetics Flash Facts

warfarin and dicoumarol

2772

Genetics Flash Facts

Q1387:Warfarin;does this drug inhibit in vitro clotting?

2773

Genetics Flash Facts

NO; warfarin's effect (vit K reductase inhibition) prvents in vivo clotting by blocking clotting factor synthesis but has no effect on existant factors.

2774

Genetics Flash Facts

Q1388:gamma-glutamyl carboxylase;this reaction catalyzes what type of modification

2775

Genetics Flash Facts

cotranslational modification of clotting factors

2776

Genetics Flash Facts

Q1389:Homocysteine methyltranferase;rxn:

2777

Genetics Flash Facts

homocysteine ---> methionine

2778

Genetics Flash Facts

Q1390:Homocysteine methyltranferase;cofactors:

2779

Genetics Flash Facts

-N5-methyl THF;-methylcobalamin (B12)

2780

Genetics Flash Facts

Q1391:mild homocysteinuria is associated with deficiencies is what vitamins

2781

Genetics Flash Facts

folate;B12;B6 (cystathionine synthase rxn)

2782

Genetics Flash Facts

Q1392:mild homocysteinuria;symptoms

2783

Genetics Flash Facts

-DVT;-stroke;-atherosclerosis

2784

Genetics Flash Facts

Q1393:how can B12 deficiency be distinguished from folate deficiency?

2785

Genetics Flash Facts

B12 deficiency is associated with methylmalonic aciduria

2786

Genetics Flash Facts

Q1394:name the 3 "ABC" carboxylases

2787

Genetics Flash Facts

(ATP; Biotin; Co2);-propionyl-CoA carboxylase;-acetyl-CoA carboxylase;-pyruvate carboxylase

2788

Genetics Flash Facts

Q1395:Methylmalonyl-CoA mutase;rxn:

2789

Genetics Flash Facts

Methylmalonyl-CoA ---> succinyl-CoA

2790

Genetics Flash Facts

Q1396:Methylmalonyl-CoA mutase;cofactor:

2791

Genetics Flash Facts

adeonsylcobalamin (B12)

2792

Genetics Flash Facts

Q1397:Methylmalonyl-CoA mutase;deficiency results in:

2793

Genetics Flash Facts

Methylmalonylic aciduria and peripheral neuropathy

2794

Genetics Flash Facts

Q1398:Lesch-Nyhan Syndrome;inheritence:

2795

Genetics Flash Facts

XLR

2796

Genetics Flash Facts

Q1399:Lesch-Nyhan Syndrome;genetic cause:

2797

Genetics Flash Facts

HGPRT deficiency

2798

Genetics Flash Facts

Q1400:Lesch-Nyhan Syndrome;symptoms:

2799

Genetics Flash Facts

-spastic cerebral palsy;-self-mutilation;-hyperuricemia;-early death

2800

Genetics Flash Facts

Q1401:6-Mercaptopurine is activated by

2801

Genetics Flash Facts

HGPRT

2802

Genetics Flash Facts

Q1402:Lesch-Nyhan Syndrome;pathophysiology

2803

Genetics Flash Facts

Loss of the salvage pathways results in shunting of Hypoxanthine and guanine to the excretion pathway;Furthermore; loss of feedback inhibition of PRPP admidotransferase results in additional purine synthesis;Thus; HGPRT deficiency leads to crippling excesses of urate

2804

Genetics Flash Facts

Q1403:HGRPT;rxn:

2805

Genetics Flash Facts

hypoxanthine/guanine -----> IMP/GMP

2806

Genetics Flash Facts

Q1404:Branched-chain Ketoacid DH;cofactors:

2807

Genetics Flash Facts

TPP;Lipoic acid;CoA;FAD;NAD

2808

Genetics Flash Facts

Q1405:Branched-chain Ketoacid DH;critical in the metabolism of

2809

Genetics Flash Facts

Valine;Leucine;Isoleucine

2810

Genetics Flash Facts

Q1406:Branched-chain Ketoacid DH;associated disease:

2811

Genetics Flash Facts

maple serup urine disease

2812

Genetics Flash Facts

Q1407:maple serup urine disease;symptoms:

2813

Genetics Flash Facts

-urine has a maple odor;-mental retardation;-abnormal muscle tone;-ketosis;-coma;death

2814

Genetics Flash Facts

Q1408:name the substances that enter the propionyl-CoA pathway

2815

Genetics Flash Facts

(VOMIT);Valine;Odd chain FA;Methionine;Isoleucine;Threonine

2816

Genetics Flash Facts

Q1409:Pyruvate DH;cofactors

2817

Genetics Flash Facts

TPP;Lipoic Acid;CoA;FAD;NAD

2818

Genetics Flash Facts

Q1410:Pyruvate DH;rxn:

2819

Genetics Flash Facts

pyruvate------> acetyl CoA

2820

Genetics Flash Facts

Q1411:Pyruvate DH;deficient in what population (consequence)

2821

Genetics Flash Facts

alcoholics due to thiamine deficiency (results in lactic acidosis)

2822

Genetics Flash Facts

Q1412:Pyruvate DH;inhibited by

2823

Genetics Flash Facts

acetyl-CoA

2824

Genetics Flash Facts

Q1413:PKU;genetic causes

2825

Genetics Flash Facts

phenylalanine hyxdroxylase deficiency;OR;tetrahydrobiopterin deficiency

2826

Genetics Flash Facts

Q1414:Aspartame is contraindicated in what condition

2827

Genetics Flash Facts

PKU

2828

Genetics Flash Facts

Q1415:PKU;untreated symptoms

2829

Genetics Flash Facts

-pale skin and white hair;-mental retardation;-loss of motor control;-musty; mousy odor

2830

Genetics Flash Facts

Q1416:PKU;-pathophysiology

2831

Genetics Flash Facts

elevated phenylalanine has a neurotoxic effect

2832

Genetics Flash Facts

Q1417:Phenylalanine hydroxylase;rxn

2833

Genetics Flash Facts

phe ---> tyrosine

2834

Genetics Flash Facts

Q1418:MCAD;function

2835

Genetics Flash Facts

oxidation of medium chain FA

2836

Genetics Flash Facts

Q1419:MCAD deficiency;symptoms

2837

Genetics Flash Facts

-fasting hypoglycemia;- NO KETONES;-C8-10 acyl carnitines in blood;-DICARBOXYLIC ACIDEMIA

2838

Genetics Flash Facts

Q1420:Dicarboxylic acidemia is pathognomonic for

2839

Genetics Flash Facts

MCAD deficiency

2840

Genetics Flash Facts

Q1421:Topoisomerase II;inhibited by what drug class in prokaryotes

2841

Genetics Flash Facts

#NAME?

2842

Genetics Flash Facts

Q1422:Topoisomerase II;function

2843

Genetics Flash Facts

relieves positive supercoiling during DNA replication by introducing negative supercoils

2844

Genetics Flash Facts

Q1423:Topoisomerase II;target for what drugs in eukaryotes

2845

Genetics Flash Facts

etoposide;teniposide

2846

Genetics Flash Facts

Q1424:Excision endonuclease;function

2847

Genetics Flash Facts

removal of intrastrand thymine dimers

2848

Genetics Flash Facts

Q1425:Xerderma pigmentosum;defective gene

2849

Genetics Flash Facts

excision endonuclease

2850

Genetics Flash Facts

Q1426:Xerderma pigmentosum;symptoms

2851

Genetics Flash Facts

extreme UV sensitivity;excessive freckling;multiple skin cancers;corneal ulcerations

2852

Genetics Flash Facts

Q1427:Carbamoyl-P Synthetase (CPS-I) deficiency

2853

Genetics Flash Facts

- urea cycle defect;- condition: type I hyperammonemia;metabolites accumulated: ammonia; glutamine; alanine

2854

Genetics Flash Facts

Q1428:Ornithine transcarbamoylase (OTC) deficiency

2855

Genetics Flash Facts

- urea cycle defect;- condition: type II hyperammonemia;metabolites accumulated: ammonia; glutamine; orotate

2856

Genetics Flash Facts

Q1429:Argininosuccinate synthetase deficiency

2857

Genetics Flash Facts

- urea cycle defect;- condition: citrullinemia;- metabolites accumulated: citrulline

2858

Genetics Flash Facts

Q1430:Argininosuccinate lyase deficiency

2859

Genetics Flash Facts

- urea cycle defect;- condition: argininosuccinic aciduria;metabolites accumulated: argininosuccinate

2860

Genetics Flash Facts

Q1431:Arginase deficiency

2861

Genetics Flash Facts

- urea cycle defect;- condition: hyperargininemia;- metabolites accumulated: arginine

2862

Genetics Flash Facts

Q1432:Maple Syrup Urine Disease

2863

Genetics Flash Facts

- AR defect in branched-chain ketoacid dehydrogenase;- high plasma & urine levels of branched-chain AA (leucine; valine; isoleucine) and their corresponding alpha-keto acids and alpha-hydroxyacids;- urine odor of maple syrup or burnt sugar;- brain damage

2864

Genetics Flash Facts

Q1433:strictly ketogenic AA

2865

Genetics Flash Facts

leu; lys;degraded tp acetyl-CoA or acetoacetyl-CoA --> both converted to ketone bodies

2866

Genetics Flash Facts

Q1434:both ketogenic + glucogenic AA

2867

Genetics Flash Facts

ile; phe; tyr; trp

2868

Genetics Flash Facts

Q1435:strictly glucogenic AA

2869

Genetics Flash Facts

all others

2870

Genetics Flash Facts

Q1436:7 metabolic intermediates derived from AA

2871

Genetics Flash Facts

acetyl-CoA;acetoacetyl-CoA;oxaloacetate;fumarate;succinylCoA;alpha-keto glutarate;propionyl-CoA (converted to succinyl-CoA)

2872

Genetics Flash Facts

Q1437:AA that form pyruvate

2873

Genetics Flash Facts

glycine; alanine; cysteine; serine; threonine; tryptophan

2874

Genetics Flash Facts

Q1438:AA that form acetyl-CoA

2875

Genetics Flash Facts

leucine; isoleucine

2876

Genetics Flash Facts

Q1439:AA that form acetoacetyl-CoA

2877

Genetics Flash Facts

leucine; lysine;phenylalanine; tryptophan; tyrosine

2878

Genetics Flash Facts

Q1440:AA that form oxaloacetate

2879

Genetics Flash Facts

asparagine; aspartate

2880

Genetics Flash Facts

Q1441:AA that form fumarate

2881

Genetics Flash Facts

tyrosine; phenylalanine

2882

Genetics Flash Facts

Q1442:AA that form propionyl-CoA (then converted to succinyl-CoA)

2883

Genetics Flash Facts

isoleucine; methionine; threonine; valine

2884

Genetics Flash Facts

Q1443:AA that form glutamate (then converted to alphaketoglutarate)

2885

Genetics Flash Facts

proline; arginine; histidine; glutamine

2886

Genetics Flash Facts

Q1444:propionic aciduria

2887

Genetics Flash Facts

2/2 deficiency of biotin; propionyl-CoA carboxylase; holocarboxylase synthase; or the enzyme that covalentloy attaches biotin to all carboxylases (in last case; additional organic acids accumulate)

2888

Genetics Flash Facts

Q1445:methylmalonic aciduria

2889

Genetics Flash Facts

2/2 deficiency in vitamin B12 or defect in methylmalonylCoA mutase;some pts respond well to megadose of vit B12

2890

Genetics Flash Facts

Q1446:pyridoxal phosphate

2891

Genetics Flash Facts

derivative of pyridoxine (vit B6);acts as coenzyme for all transaminases

2892

Genetics Flash Facts

Q1447:CPS-1 activation

2893

Genetics Flash Facts

high protein diet --> glutamate accumulation --> increase in NAG --> CPS-1 activation

2894

Genetics Flash Facts

Q1448:arginase found only in

2895

Genetics Flash Facts

brain; liver; kidney

2896

Genetics Flash Facts

Q1449:amino groups in muscle

2897

Genetics Flash Facts

transferred to pyruvate to form alanine --> dumped into circulation --> picked up by liver; where it is converted back to pyruvate

2898

Genetics Flash Facts

Q1450:liver uses pyruvate for

2899

Genetics Flash Facts

gluconeogenesis

2900

Genetics Flash Facts

Q1451:liver uses amino groups for

2901

Genetics Flash Facts

urea synthesis

2902

Genetics Flash Facts

Q1452:phenylketonuria (PKU)

2903

Genetics Flash Facts

deficiency in phenylalanine hydroxylase or dihydrobiopterin reductase;buildup of phenylalanine; phenylpyruvate; phenylacetate; phenyllactate in blood and urine;**tyrosine becomes an essential AA**

2904

Genetics Flash Facts

Q1453:PKU Sx

2905

Genetics Flash Facts

musty body odor;MR

2906

Genetics Flash Facts

Q1454:dihydrobiopterin reductase deficiency

2907

Genetics Flash Facts

PKU + impairment of catecholamine and serotonin synthesis

2908

Genetics Flash Facts

Q1455:PKU Tx

2909

Genetics Flash Facts

remove phenylalanine from diet (incl NutraSweet)

2910

Genetics Flash Facts

Q1456:NutraSweet

2911

Genetics Flash Facts

dipeptide containing phenylalanine + aspartic acid

2912

Genetics Flash Facts

Q1457:precursor for tyrosine

2913

Genetics Flash Facts

phenylalanine

2914

Genetics Flash Facts

Q1458:sulfur for cysteine synthesis comes from

2915

Genetics Flash Facts

methionine

2916

Genetics Flash Facts

Q1459:if phenylalanine deficient in diet

2917

Genetics Flash Facts

tyrosine becomes essential AA

2918

Genetics Flash Facts

Q1460:if methionine essential in diet

2919

Genetics Flash Facts

cysteine becomes essential AA

2920

Genetics Flash Facts

Q1461:elevated plasma homocysteine is risk factor for

2921

Genetics Flash Facts

coronary heart disease;independent of risk associated with elevated cholesterol

2922

Genetics Flash Facts

Q1462:homocystinuria

2923

Genetics Flash Facts

large amts. homocystine in urine;acquired or inherited;most often seen in children with FTT; lens displacement

2924

Genetics Flash Facts

Q1463:causes of homocystinuria

2925

Genetics Flash Facts

deficiency in pyridoxine; folate; or vitamin B12;OR;inherited defect in either cystathionine synthase or methionine synthase;all above result in accumulation of homocysteine; which is readily oxidized to its disulfide form; homocystine

2926

Genetics Flash Facts

Q1464:homocystine

2927

Genetics Flash Facts

disulfide form of homocysteine

2928

Genetics Flash Facts

Q1465:cysthathionuria

2929

Genetics Flash Facts

2/2 deficiency in pyridoxine or from genetic defect in cystathionase;large amts. cystathionine found in urine + blood

2930

Genetics Flash Facts

Q1466:Parkinson dz: cause

2931

Genetics Flash Facts

decreased dopamine in substantia nigra

2932

Genetics Flash Facts

Q1467:Parkinson prevalence

2933

Genetics Flash Facts

1% of pop > 55yrs

2934

Genetics Flash Facts

Q1468:Parkinson Sx

2935

Genetics Flash Facts

tremors; postural instability; rigidity; bradykinesia

2936

Genetics Flash Facts

Q1469:Parkinson Tx

2937

Genetics Flash Facts

L-dopa + carbidopa

2938

Genetics Flash Facts

Q1470:Carbidopa

2939

Genetics Flash Facts

decreases extra-CNS effects of L-dopa;selectively inhibits aromatic acid decarboxylase outside CNS;does not cross BBB so does not inhibit conversion of L-dopa --> dopamine

2940

Genetics Flash Facts

Q1471:carcinoid tumors

2941

Genetics Flash Facts

neoplastic transformation of enterochromaffin cells;secrete excess serotonin;high levels of 5-HI in urine

2942

Genetics Flash Facts

Q1472:nitroglycerin and other angina tx

2943

Genetics Flash Facts

act in part to spontaneously generate nitric oxide

2944

Genetics Flash Facts

Q1473:porphyria

2945

Genetics Flash Facts

any abnormality in pathway of heme synthesis;block early in pathway: intermediates buildup & are excreted in urine;block late in pathway: excreted in urine + feces; accumulate in skin

2946

Genetics Flash Facts

Q1474:lead poisoning and heme synthesis

2947

Genetics Flash Facts

lead poisoning can be considered acquired porphyria b/c inhibits ALA DEHYDRATASE and HEME SYNTHASE (FERROCHELATASE)

2948

Genetics Flash Facts

Q1475:4 broad causes of hyperbilirubinemia

2949

Genetics Flash Facts

massive hemolysis;block in heme catabolism;bile obstruction;liver damage;always jaundice

2950

Genetics Flash Facts

Q1476:anabolism

2951

Genetics Flash Facts

build stuff (need energy)

2952

Genetics Flash Facts

Q1477:What a.a. is the smallest?

2953

Genetics Flash Facts

Glycine

2954

Genetics Flash Facts

Q1478:What a.a. is involved in gluconeogenesis?

2955

Genetics Flash Facts

Alanine

2956

Genetics Flash Facts

Q1479:What a.a. are branched?

2957

Genetics Flash Facts

Valine;Leucine;Isoleucine;I Saw Lucy and Val(erie) Like syrup

2958

Genetics Flash Facts

Q1480:What a.a. bends proteins?

2959

Genetics Flash Facts

Proline

2960

Genetics Flash Facts

Q1481:What a.a. is converted to tyrosine?

2961

Genetics Flash Facts

Phenylalanine

2962

Genetics Flash Facts

Q1482:What is made with Tyrosine? 3 things;

2963

Genetics Flash Facts

1) Catecholamines (NE; Epi);2) Thyroid T3/T4;3) Melanin

2964

Genetics Flash Facts

Q1483:What causes Hartnup Dz?

2965

Genetics Flash Facts

Tryptophan ;tryp up the esophagus

2966

Genetics Flash Facts

Q1484:What coenzyme is needed to degrade tryptophan?

2967

Genetics Flash Facts

Niacin

2968

Genetics Flash Facts

Q1485:What deffect do you see when you have Niacin defiency?

2969

Genetics Flash Facts

Pellagra

2970

Genetics Flash Facts

Q1486:What are the symptoms of pellagra?

2971

Genetics Flash Facts

Diarrhea;Dermatitis;Dementia

2972

Genetics Flash Facts

Q1487:What are the basic a.a.?

2973

Genetics Flash Facts

HAL;Histidine;Alaline;Lysine

2974

Genetics Flash Facts

Q1488:What two a.a. are acidic?

2975

Genetics Flash Facts

Aspartate;Glutamate;aspartic acid; glutamic acid

2976

Genetics Flash Facts

Q1489:What a.a. have OH in htem?

2977

Genetics Flash Facts

Serine;Threonine

2978

Genetics Flash Facts

Q1490:Valine is a branched a.a. what happens glutamate is changed to val?;glutamate ----> valine

2979

Genetics Flash Facts

Sickle Cell Anemia;Missense mutation;anemia sickle

2980

Genetics Flash Facts

Q1491:What happens when there is a deletion of phenylalanine at position 508?

2981

Genetics Flash Facts

Cystic Fibrosis;Chromosome seven;problem in folding proteins

2982

Genetics Flash Facts

Q1492:Why is cysteine important?

2983

Genetics Flash Facts

Because it produces S-thiol and is the Tx for Acetaminophen Toxicity;NO+ guanylate cyclase increasing cGMP

2984

Genetics Flash Facts

Q1493:Why is methionine important?

2985

Genetics Flash Facts

Makes AUG; SAM;initiate transcription;methylates in SAM

2986

Genetics Flash Facts

Q1494:WHat is asparagine famous for?

2987

Genetics Flash Facts

N.glycosylation in E.R. mannose to protein

2988

Genetics Flash Facts

Q1495:WHat is glutamine used for?

2989

Genetics Flash Facts

NH3 donor;Amonia

2990

Genetics Flash Facts

Q1496:WHat a.a. is need in positve nitrogen balance?

2991

Genetics Flash Facts

Arginine

2992

Genetics Flash Facts

Q1497:When does positive nitrogen balance occur?

2993

Genetics Flash Facts

Growth;Pregnancy;Recovery from injury or surgery;Recovery from Negative Nitrogen Balance

2994

Genetics Flash Facts

Q1498:When does negative nitrogen balance?

2995

Genetics Flash Facts

Protein Malnutrition (Kwashiorkor);Starvation (Marasmus);DM uncontrolled;Infection;Diet Defficient of essential a.a.

2996

Genetics Flash Facts

Q1499:What is the enzyme deficiency in Von Gierke's disease (Type I)?

2997

Genetics Flash Facts

Glucose-6-phosphatase

2998

Genetics Flash Facts

Q1500:What is the enzyme deficiency in Pompe's disease (Type II)?

2999

Genetics Flash Facts

Lysosomal alpha-1;4-glucosidase

3000

Genetics Flash Facts

Q1501:What is the enzyme deficiency in Cori's disease (Type III)?

3001

Genetics Flash Facts

Debranching enzyme alpha-1;6-glucosidase

3002

Genetics Flash Facts

Q1502:What is the enzyme deficiency in McArdle's disease (Type V)?

3003

Genetics Flash Facts

Skeletal muscle glycogen phosphorylase

3004

Genetics Flash Facts

Q1503:What is the enzyme deficiency in Andersen's disease (Type IV)?

3005

Genetics Flash Facts

Glycogen branching enzyme amylo-1;4-1;6-transglucosidase

3006

Genetics Flash Facts

Q1504:What is the enzyme deficiency in Tarui's disease (Type VII)?

3007

Genetics Flash Facts

Skeletal muscle PFK-1

3008

Genetics Flash Facts

Q1505:What are the findings in Von Gierke's disease (Type I) (6)?

3009

Genetics Flash Facts

Severe fasting hypoglycemia;Increased glycogen in liver;Thin extremities; chubby facies;Fatty liver;Renal disease;Growth retardation; delayed puberty

3010

Genetics Flash Facts

Q1506:What are the findings in Pompe's disease (Type II) (4)?

3011

Genetics Flash Facts

Cardiomegaly;Early death;Normal blood glucose;"Trashes the pump" (heart; liver; muscle)

3012

Genetics Flash Facts

Q1507:What are the findings in Cori's disease (Type III) (3)?

3013

Genetics Flash Facts

Hypoglycemia;Failure to thrive;Hepatomegaly

3014

Genetics Flash Facts

Q1508:What are the findings in McArdle's disease (Type V) (3)?

3015

Genetics Flash Facts

Increased glycogen in muscle (can't break it down);Paimful cramps;No rise in lactate w/ exercise

3016

Genetics Flash Facts

Q1509:What are the findings in Tarui's disease (Type VII) (4)?

3017

Genetics Flash Facts

Like McArdle's;Nausea and vomiting;Acute exacerbation after high-carb meal;Hyperuricemia and hyperbilirubinemia

3018

Genetics Flash Facts

Q1510:What are the findings in Andersen's disease (Type IV) (4)?

3019

Genetics Flash Facts

Glycogen with unbranched chains in tissue;Resembles amylopectin;Failure to thrive;Hepatosplenomegaly

3020

Genetics Flash Facts

Q1511:How do you treat Von Gierke's disease (Type I)?

3021

Genetics Flash Facts

Nocturnal glucose; uncooked corn starch

3022

Genetics Flash Facts

Q1512:What is/are the MAJOR REGULATORY ENZYME of the citric acid cycle?

3023

Genetics Flash Facts

Citrate synthase

3024

Genetics Flash Facts

Q1513:What is/are the MAJOR REGULATORY ENZYME of glycolysis?

3025

Genetics Flash Facts

Phosphofructokinase-1

3026

Genetics Flash Facts

Q1514:What is/are the MAJOR REGULATORY ENZYME of pyruvate oxidation?

3027

Genetics Flash Facts

Pyruvate dehydrogenase

3028

Genetics Flash Facts

Q1515:What is/are the MAJOR REGULATORY ENZYMES of gluconeogenesis (3)?

3029

Genetics Flash Facts

Pyruvate carboxylase;Phosphoenolpyruvate carboxykinase;Fructose-1;6-bisphosphatase

3030

Genetics Flash Facts

Q1516:What is/are the MAJOR REGULATORY ENZYME of glycogenesis?

3031

Genetics Flash Facts

Glycogen synthase

3032

Genetics Flash Facts

Q1517:What is/are the MAJOR REGULATORY ENZYME of glycogenolysis?

3033

Genetics Flash Facts

Glycogen phosphorylase

3034

Genetics Flash Facts

Q1518:What is/are the MAJOR REGULATORY ENZYME of the pentose phosphate pathway?

3035

Genetics Flash Facts

Glucose-6-phosphate dehydrogenase

3036

Genetics Flash Facts

Q1519:What is/are the MAJOR REGULATORY ENZYME of cholesterol synthesis?

3037

Genetics Flash Facts

HMG-CoA reductase

3038

Genetics Flash Facts

Q1520:What is/are the MAJOR REGULATORY ENZYME of lipogenesis?

3039

Genetics Flash Facts

Acetyl-CoA carboxylase

3040

Genetics Flash Facts

Q1521:What are the major ACTIVATORS of phosphofructokinase-1 (3)?

3041

Genetics Flash Facts

AMP;Fructose-2;6-bisphosphate (liver);Fructose-1;6bisphosphate (muscle)

3042

Genetics Flash Facts

Q1522:What are the major ACTIVATORS of pyruvate dehydrogenase (4)?

3043

Genetics Flash Facts

CoA;NAD;ADP;Pyruvate

3044

Genetics Flash Facts

Q1523:What is the major ACTIVATOR of pyruvate carboxylase and phosphoenolpyruvate carboxykinase?

3045

Genetics Flash Facts

Acetyl-CoA

3046

Genetics Flash Facts

Q1524:What is the major ACTIVATOR of fructose-1;6bisphosphatase?

3047

Genetics Flash Facts

cAMP

3048

Genetics Flash Facts

Q1525:What are the major ACTIVATORS of glycogen phosphorylase (2)?

3049

Genetics Flash Facts

cAMP;Ca2+ (muscle)

3050

Genetics Flash Facts

Q1526:What is the major ACTIVATOR of glucose-6phosphate dehydrogenase?

3051

Genetics Flash Facts

NADP+

3052

Genetics Flash Facts

Q1527:What is the major ACTIVATOR of acetyl-CoA carboxylase

3053

Genetics Flash Facts

Citrate

3054

Genetics Flash Facts

Q1528:What are the INHIBITORS of citrate synthase (2)?

3055

Genetics Flash Facts

ATP;Long-chain acyl-CoA

3056

Genetics Flash Facts

Q1529:What are the INHIBITORS of phosphofructokinase-1 (3)?

3057

Genetics Flash Facts

Citrate (fatty acids; ketone bodies);ATP;cAMP

3058

Genetics Flash Facts

Q1530:What are the INHIBITORS of pyruvate dehydrogenase (3)?

3059

Genetics Flash Facts

Acetyl-CoA;NADH;ATP (fatty acids; ketone bodies)

3060

Genetics Flash Facts

Q1531:What is the INHIBITOR of pyruvate carboxylase and phosphoenolpyruvate carboxykinase?

3061

Genetics Flash Facts

ADP

3062

Genetics Flash Facts

Q1532:What are the INHIBITORS of fructose-1;6bisphosphatase (2)?

3063

Genetics Flash Facts

AMP;Fructose-2;6-bisphosphatase

3064

Genetics Flash Facts

Q1533:What are the INHIBITORS of glycogen synthase (3)?

3065

Genetics Flash Facts

Phosphorylase (liver);cAMP (muscle);Ca2+ (muscle)

3066

Genetics Flash Facts

Q1534:What is the INHIBITOR of glucose-6-phosphate dehydrogenase?

3067

Genetics Flash Facts

NADPH

3068

Genetics Flash Facts

Q1535:What are the INHIBITORS of acetyl-CoA carboxylase (2)?

3069

Genetics Flash Facts

Long-chain acyl-CoA;cAMP

3070

Genetics Flash Facts

Q1536:What are the INHIBITORS of HMG-CoA reductase (2)?

3071

Genetics Flash Facts

Cholesterol;cAMP

3072

Genetics Flash Facts

Q1537:What two rate-limiting enzymes are INHIBITED by long-chain acyl-CoA?

3073

Genetics Flash Facts

Citrate synthase;Acetyl-CoA carboxylase

3074

Genetics Flash Facts

Q1538:What two rate-limiting enzymes are ACTIVATED by cAMP?

3075

Genetics Flash Facts

Fructose-1;6-bisphosphatase;Glycogen phosphorylase

3076

Genetics Flash Facts

Q1539:What is Type I Familial Dyslipidemia?

3077

Genetics Flash Facts

hyperchylomicronemia

3078

Genetics Flash Facts

Q1540:What is Type IIa Familial Dyslipidemia?

3079

Genetics Flash Facts

hypercholesterolemia

3080

Genetics Flash Facts

Q1541:What is Type IIb Familial Dyslipidemia?

3081

Genetics Flash Facts

combined hyperlipidemia

3082

Genetics Flash Facts

Q1542:What is Type III Familial Dyslipidemia?

3083

Genetics Flash Facts

dysbetalipoproteinemia

3084

Genetics Flash Facts

Q1543:What is Type IV Familial Dyslipidemia?

3085

Genetics Flash Facts

hypertriglyceridemia

3086

Genetics Flash Facts

Q1544:What is Type V Familial Dyslipidemia?

3087

Genetics Flash Facts

mixed hypertriglyceridemia

3088

Genetics Flash Facts

Q1545:What is the INHERITANCE of Type IIa Familial dyslipidemia? (hypercholesterolemia)

3089

Genetics Flash Facts

autosomal dominant

3090

Genetics Flash Facts

Q1546:What is INCREASED in Type I Familial Dyslipidemia?

3091

Genetics Flash Facts

chylomicrons

3092

Genetics Flash Facts

Q1547:What is INCREASED in Type IIa Familial Dyslipidemia (hypercholesterolemia)?

3093

Genetics Flash Facts

LDL

3094

Genetics Flash Facts

Q1548:What is INCREASED in Type Iib Familial Dyslipidemia (combined hyperlipidemia)?

3095

Genetics Flash Facts

LDL; VDL

3096

Genetics Flash Facts

Q1549:What is INCREASED in Type III Familial Dyslipidemia (dysbetalipoproteinemia)?

3097

Genetics Flash Facts

IDL; VLDL

3098

Genetics Flash Facts

Q1550:What is INCREASED in Type IV Familial Dyslipidemia (hypertriglyceridemia)?

3099

Genetics Flash Facts

VLDL

3100

Genetics Flash Facts

Q1551:What is INCREASED in Type V Familial Dyslipidemia (mixed hypertriglyceridemia)?

3101

Genetics Flash Facts

VLDL; chylomicrons

3102

Genetics Flash Facts

Q1552:Type I hyperchylomicronemia ELEVATED BLOOD LEVELS?

3103

Genetics Flash Facts

TG; cholesterol

3104

Genetics Flash Facts

Q1553:Type IIa hypercholesterolemia ELEVATED BLOOD LEVELS?

3105

Genetics Flash Facts

cholesterol

3106

Genetics Flash Facts

Q1554:Type IIb combined hyperlipidemia ELEVATED BLOOD LEVELS?

3107

Genetics Flash Facts

TG; cholesterol

3108

Genetics Flash Facts

Q1555:Type III dysbetalipoproteinemia ELEVATED BLOOD LEVELS?

3109

Genetics Flash Facts

TG; cholesterol

3110

Genetics Flash Facts

Q1556:Type IV hypertriglyceridemia ELEVATED BLOOD LEVELS?

3111

Genetics Flash Facts

TG

3112

Genetics Flash Facts

Q1557:Type V mixed hypertriglyceridemia ELEVATED BLOOD LEVELS?

3113

Genetics Flash Facts

TG; cholesterol

3114

Genetics Flash Facts

Q1558:Type I hyperchylomicronemia PATHOPHYSIOLOGY?

3115

Genetics Flash Facts

Lipoprotein lipase deficiency; or altered apolipoprotein C-II (co-factor for lipoprotein lipase)

3116

Genetics Flash Facts

Q1559:Type IIa hypercholesterolemia PATHOPHYSIOLOGY?

3117

Genetics Flash Facts

DECREASE LDL receptors

3118

Genetics Flash Facts

Q1560:Type IIb combined hyperlipidemia PATHOPHYSIOLOGY?

3119

Genetics Flash Facts

hepatic OVERPRODUCTION of VLDL

3120

Genetics Flash Facts

Q1561:Type III dysbetalipoproteinemia PATHOPHYSIOLOGY?

3121

Genetics Flash Facts

ALTERED apolipoprotein E

3122

Genetics Flash Facts

Q1562:Type IV hypertriglyceridemia PATHOPHYSIOLOGY?

3123

Genetics Flash Facts

hepatic OVERPRODUCTION of VLDL

3124

Genetics Flash Facts

Q1563:Type V mixed hypertriglyceridemia PATHOPHYSIOLOGY?

3125

Genetics Flash Facts

INCREASE production/DECREASE clearance of VLDL and chylomicrons

3126

Genetics Flash Facts

Q1564:Vit A too much

3127

Genetics Flash Facts

arthralgias; fatigue; headache; skin changes; sore throat; alopecia

3128

Genetics Flash Facts

Q1565:dry beriberi

3129

Genetics Flash Facts

polyneuritis; muscle wasting

3130

Genetics Flash Facts

Q1566:wet beriberi

3131

Genetics Flash Facts

dilated cardiomyopathy; edema

3132

Genetics Flash Facts

Q1567:B2 deficiency

3133

Genetics Flash Facts

angular stomatitis; cheilosis; corneal vascularization

3134

Genetics Flash Facts

Q1568:B3 deficiency

3135

Genetics Flash Facts

pellagra; diarrhea; dermatitis; dementia; beefy glossitis.

3136

Genetics Flash Facts

Q1569:causes of pellegra

3137

Genetics Flash Facts

hartnup disease (dec tryptophan absorbtion); malignant carcinoid syndrome (increased trypophan metabolism); and INH (decreased B6)

3138

Genetics Flash Facts

Q1570:B5 deficiency

3139

Genetics Flash Facts

dermatitis; enteritis; alopecia; adrenal insufficiency.

3140

Genetics Flash Facts

Q1571:B6 deficiency

3141

Genetics Flash Facts

convulsions; hyperirritability; peripheral neuropathy.

3142

Genetics Flash Facts

Q1572:Sources of B6 deficiency

3143

Genetics Flash Facts

INH; oral contraceptives.

3144

Genetics Flash Facts

Q1573:B12 function

3145

Genetics Flash Facts

Homocysteine + N-methyl THF (B12) to Methionine + THF; Methylmalonyl-CoA (B12) to Succinyl-CoA

3146

Genetics Flash Facts

Q1574:causes of B12 defiency

3147

Genetics Flash Facts

malabsorption (sprue; enteritis; Diphyllobothrium latum); lack of IF (pernicious anemia); or absence of terminal ileum (chron's)

3148

Genetics Flash Facts

Q1575:folic acid precursor in bacteria and use

3149

Genetics Flash Facts

PABA - sulfa drugs and dapsone are PABA analogs.

3150

Genetics Flash Facts

Q1576:biotin deficiency

3151

Genetics Flash Facts

dermatitis; enteritis

3152

Genetics Flash Facts

Q1577:causes of biotin defiency

3153

Genetics Flash Facts

antibiotic use; ingestion of raw eggs

3154

Genetics Flash Facts

Q1578:vit c deficiency

3155

Genetics Flash Facts

scurvy - swollen gums; bruising; anemia; poor wound healing.

3156

Genetics Flash Facts

Q1579:vit c 3 mech

3157

Genetics Flash Facts

hydroxylation of proline and lysine in collagen synthesis; facilitates iron absorption by keeping iron in Fe+2 reduced state; necessary as a cofactor for Dopamine to NE

3158

Genetics Flash Facts

Q1580:Types of Vit D

3159

Genetics Flash Facts

D2 - ergocalciferol; in milk; D3 - cholecalciferol; sun exposed skin; 25-OH D3 - storage form; 1;25 (OH)2 D3 active form.

3160

Genetics Flash Facts

Q1581:Vit D def

3161

Genetics Flash Facts

Rickets kids (bending bones); osteomalacia in adults (soft bones) and hypocalcemic tenatny

3162

Genetics Flash Facts

Q1582:Vit D function

3163

Genetics Flash Facts

increases Ca and Phosphate aborption.

3164

Genetics Flash Facts

Q1583:Vit D excess

3165

Genetics Flash Facts

Hypercalcemia; loss of appetitie; stupor. Sarcoid - epitheliod macrophages convert Vit D into its active form.

3166

Genetics Flash Facts

Q1584:Vit E def

3167

Genetics Flash Facts

increases fragility of EEErythrocytes; neurodysfunction

3168

Genetics Flash Facts

Q1585:Vit E function

3169

Genetics Flash Facts

antioxidant (protects erythrocytes from hemolysis.

3170

Genetics Flash Facts

Q1586:sxs and causes of Vit K def

3171

Genetics Flash Facts

neonatal hemorrhage with increased PT/aPTT but normal bleeding times - sterile intestine cant make Vit K

3172

Genetics Flash Facts

Q1587:Vit K dependent factors

3173

Genetics Flash Facts

2;7;9;10

3174

Genetics Flash Facts

Q1588:Vit K antagonist

3175

Genetics Flash Facts

warfarin

3176

Genetics Flash Facts

Q1589:Vit K function

3177

Genetics Flash Facts

Catalyzes (gamma)-carboxylation of glutamic acid residues on various proteins concerned with blood clotting.

3178

Genetics Flash Facts

Q1590:Zinc deficiency

3179

Genetics Flash Facts

Delayed wound healing; hypogonadism; dec adult hair; may predispose to alcoholic cirrhosis.

3180

Genetics Flash Facts

Q1591:ETOH metabolism

3181

Genetics Flash Facts

ETOH (alcohol dehydrogenase) to acetaldehyde (acetaldehyde dehydrogenase) to acetate. Both require NAD+ which goes to NADH

3182

Genetics Flash Facts

Q1592:ETOH met rate limiting reagent

3183

Genetics Flash Facts

NAD+

3184

Genetics Flash Facts

Q1593:alcohol dehydrogenase kinetics

3185

Genetics Flash Facts

zero order

3186

Genetics Flash Facts

Q1594:Antabuse mech

3187

Genetics Flash Facts

inhibits acetaldehyde dehydrogenase

3188

Genetics Flash Facts

Q1595:EtOH hypoglycemia

3189

Genetics Flash Facts

ETOH metabolism increases NADH/NAD+ ratio in liver pyruvate to lactate and OAA to malate - inhibits gluconeogensis and thus hypoglycemia - fatty acid synthesis hepatocellular steatosis (hepatic fatty change)

3190

Genetics Flash Facts

Q1596:Kwashiorkor

3191

Genetics Flash Facts

MEAL - malabsorption; edema; anemia; liver (fatty) - protein malnutrition

3192

Genetics Flash Facts

Q1597:Marasmus

3193

Genetics Flash Facts

energy malnutrition - tissue and muscle wasting; loss of subcut fat; variable edema

3194

Genetics Flash Facts

Q1598:Von Gierke's disease;Deficient enzyme

3195

Genetics Flash Facts

glucose-6-phosphatase

3196

Genetics Flash Facts

Q1599:Von Gierke's disease;Findings

3197

Genetics Flash Facts

Type I glycogen storage disease;Severe fasting hypoglycemia; increased glycogen in liver; increased blood lactate; hepatomegaly

3198

Genetics Flash Facts

Q1600:Pompe's disease;Deficient enzyme

3199

Genetics Flash Facts

Lysosomal alpha-1-4-glucosidase (acid maltase)

3200

Genetics Flash Facts

Q1601:Pompe's disease;Findings

3201

Genetics Flash Facts

Type II glycogen storage disease;Cardiomegaly and systemic findings leading to early death;Pompe's trashes the Pump (heart; liver and muscle)

3202

Genetics Flash Facts

Q1602:Cori's disease;Deficient enzyme

3203

Genetics Flash Facts

Debranching enzyme; alpha-1;6-glucosidase

3204

Genetics Flash Facts

Q1603:Cori's disease;Findings

3205

Genetics Flash Facts

milder form of type I (Von Gierke's disease) with normal blood lactate levels;Gluconeogenesis is intact

3206

Genetics Flash Facts

Q1604:McArdle's disease;Deficient enzyme

3207

Genetics Flash Facts

Skeletal muscle glycogen phosphorylase

3208

Genetics Flash Facts

Q1605:McArdle's disease;Findings

3209

Genetics Flash Facts

increased glycogen in muscle; but cannot break it down; leading to painful muscle cramps; myoglobinuria with strenuous exercise;McArdles: think MUSCLE

3210

Genetics Flash Facts

Q1606:Fabry's disease;Deficient enzyme

3211

Genetics Flash Facts

Sphingolipidoses;alpha-galactosidase A;X-linked recessive!!!

3212

Genetics Flash Facts

Q1607:Fabry's disease;accumulated substrate

3213

Genetics Flash Facts

ceramide trihexoside;X-linked recessive!!!

3214

Genetics Flash Facts

Q1608:Fabry's disease;Findings

3215

Genetics Flash Facts

peripheral neuropathy of hands/feet; angiokeratomas; cardiovascular/renal disease;X-linked recessive!!!

3216

Genetics Flash Facts

Q1609:Gaucher's disease;Deficient enzyme

3217

Genetics Flash Facts

beta-glucocerebrosidase!!;AR

3218

Genetics Flash Facts

Q1610:Gaucher's disease;Accumulated substrate

3219

Genetics Flash Facts

Glucocerebroside

3220

Genetics Flash Facts

Q1611:Gaucher's disease;Findings

3221

Genetics Flash Facts

AR!!;hepatosplenomegaly; aseptic necrosis of the femur; bone crises; Gaucher's cells (macrophages that look like crumpled paper)

3222

Genetics Flash Facts

Q1612:Niemann-Pick disease;Deficient enzyme

3223

Genetics Flash Facts

Sphingomyelinase

3224

Genetics Flash Facts

Q1613:Niemann-Pick disease;Accumulated substrate

3225

Genetics Flash Facts

Sphingomyelin;AR

3226

Genetics Flash Facts

Q1614:Niemann-Pick disease;Findings

3227

Genetics Flash Facts

progressive neurodegeneration; hepatosplenomegaly; cherryred-spot (on macula); foam cells;AR!

3228

Genetics Flash Facts

Q1615:Tay-Sachs disease;Deficient enzyme

3229

Genetics Flash Facts

hexosaminidase

3230

Genetics Flash Facts

Q1616:Tay-Sachs disease;Accumulated substrate

3231

Genetics Flash Facts

GM2 ganglioside;AR

3232

Genetics Flash Facts

Q1617:Tay-Sachs disease;Findings

3233

Genetics Flash Facts

progressive neurodegeneration; developmental delay; cherryred spot; lysosomes with onion skin!!

3234

Genetics Flash Facts

Q1618:Krabbe's disease;Deficient enzyme

3235

Genetics Flash Facts

Galactocerebrosidase;AR

3236

Genetics Flash Facts

Q1619:Krabbe's disease;Accumulated substrate

3237

Genetics Flash Facts

galactocerebroside

3238

Genetics Flash Facts

Q1620:Krabbe's disease;Findings

3239

Genetics Flash Facts

peripheral neuropathy; developmental delay; optic atrophy; globoid cells

3240

Genetics Flash Facts

Q1621:Metachromic leukodystrophy;Deficient enzyme

3241

Genetics Flash Facts

Arylsulfatase A

3242

Genetics Flash Facts

Q1622:Metachromic leukodystrophy;Accumulated substrate

3243

Genetics Flash Facts

Cerebroside sulfate

3244

Genetics Flash Facts

Q1623:Metachromic leukodystrophy;Findings

3245

Genetics Flash Facts

Central and peripheral demyelination with ataxia; dementia

3246

Genetics Flash Facts

Q1624:Mucopolysaccharidoses

3247

Genetics Flash Facts

Hurler's syndrome and Hunter's syndrome

3248

Genetics Flash Facts

Q1625:Hurler's syndrome;Deficient enzyme

3249

Genetics Flash Facts

alpha-L-iduronidase

3250

Genetics Flash Facts

Q1626:Hurler's syndrome;accumulated substrate

3251

Genetics Flash Facts

heparan sulfate; dermatan sulfate

3252

Genetics Flash Facts

Q1627:Hurler's syndrome;Findings

3253

Genetics Flash Facts

developmental delay; gargoylism; airway obstruction; corneal clouding; hepatosplenomegaly

3254

Genetics Flash Facts

Q1628:Hunter's syndrome;Deficient enzyme

3255

Genetics Flash Facts

Mucopolysaccharidoses;iduronate sulfatase

3256

Genetics Flash Facts

Q1629:Hunter's syndrome;Accumulated substrate

3257

Genetics Flash Facts

heparan sulfate; dermatan sulfate

3258

Genetics Flash Facts

Q1630:Hunter's syndrome;Findings

3259

Genetics Flash Facts

XR!!!;mild-Hurler's (developmental delay; gargoylism; airway obstruction; corneal clouding; hepatosplenomegaly) with aggressive behavior; NO corneal clouding

3260

Genetics Flash Facts

Q1631:What are the FINDINGS in Fabry's disease?

3261

Genetics Flash Facts

1. peripheral neuropathy of hands/feet;2. angiokeratomas;3. cardiovascular/renal disease

3262

Genetics Flash Facts

Q1632:What are the FINDINGS in Gaucher's disease?

3263

Genetics Flash Facts

1. hepatosplenomegaly;2. asceptic necrosis of femur;3. bone crises;4. Gaucher's cells (macrophages)

3264

Genetics Flash Facts

Q1633:What are the FINDINGS in Niemann-Pick disease?

3265

Genetics Flash Facts

1. progressive neurodegeneration;2. hepatosplenomegaly;3. cherry red spot (on macula)

3266

Genetics Flash Facts

Q1634:What are the FINDINGS in Tay-Sachs disease?

3267

Genetics Flash Facts

1. progressive neurodegeneration;2. developmental delay;3. cherry-red spot;4. lysozymes with onion skin

3268

Genetics Flash Facts

Q1635:What are the FINDINGS in Krabbe's disease?

3269

Genetics Flash Facts

1. peripheral neuropathy;2. developmental delay;3. optic atrophy

3270

Genetics Flash Facts

Q1636:What are the FINDINGS in Metachromatic leukodystrophy disease?

3271

Genetics Flash Facts

1. Central and peripheral demyelination;2. ataxia;3. dementia

3272

Genetics Flash Facts

Q1637:What are the FINDINGS in Hurler's Syndrome?

3273

Genetics Flash Facts

1. Developmental delay;2. gargoylism;3. airway obstruction;4. corneal clouding;5. hepatosplenomegaly

3274

Genetics Flash Facts

Q1638:What are the FINDINGS in Hunter's Syndrome?

3275

Genetics Flash Facts

1. aggressive behavior;2. NO corneal clouding;3. Mild Hurler's;4. developmental delay;5. gargoylism;6. airway obstruction;7. hepatosplenomegaly

3276

Genetics Flash Facts

Q1639:What is the DEFICIENT ENZYME in Fabry's disease?

3277

Genetics Flash Facts

alpha-galactosidase A

3278

Genetics Flash Facts

Q1640:What is the DEFICIENT ENZYME in Gaucher's disease?

3279

Genetics Flash Facts

beta-glucocerebrosidase

3280

Genetics Flash Facts

Q1641:What is the DEFICIENT ENZYME in Niemann-Pick disease?

3281

Genetics Flash Facts

sphingomyelinase;"NO MAN PICKS (NIEMANN-PICK) his nose with his SPHINGER (SPHINGOMYELINASE)."

3282

Genetics Flash Facts

Q1642:What is the DEFICIENT ENZYME in Tay-Sach's disease?

3283

Genetics Flash Facts

Hexosaminidase A;;"Tay-SaX (TAY-SACHS) lacks heXosaminidase."

3284

Genetics Flash Facts

Q1643:What is the DEFICIENT ENZYME in Krabbe's disease?

3285

Genetics Flash Facts

beta-galactosidase

3286

Genetics Flash Facts

Q1644:What is the DEFICIENT ENZYME in Metachromatic Leukodystrophy disease?

3287

Genetics Flash Facts

Arylsulfatase A

3288

Genetics Flash Facts

Q1645:What is the DEFICIENT ENZYME in Hurler's syndrome?

3289

Genetics Flash Facts

alpha-L-iduronidase

3290

Genetics Flash Facts

Q1646:What is the DEFICIENT ENZYME in Hunter's syndrome?

3291

Genetics Flash Facts

Iduronate sulfatase

3292

Genetics Flash Facts

Q1647:What is the ACCUMULATED SUBSTRATE in Fabry's disease?

3293

Genetics Flash Facts

Ceramide trihexoside

3294

Genetics Flash Facts

Q1648:What is the ACCUMULATED SUBSTRATE in Gaucher's disease?

3295

Genetics Flash Facts

glucocerebroside

3296

Genetics Flash Facts

Q1649:What is the ACCUMULATED SUBSTRATE in Niemann-Pick disease?

3297

Genetics Flash Facts

Sphingomyelin

3298

Genetics Flash Facts

Q1650:What is the ACCUMULATED SUBSTRATE in Tay-Sachs disease?

3299

Genetics Flash Facts

GM2 ganglioside

3300

Genetics Flash Facts

Q1651:What is the ACCUMULATED SUBSTRATE in Krabbe's disease?

3301

Genetics Flash Facts

Galactocerebroside

3302

Genetics Flash Facts

Q1652:What is the ACCUMULATED SUBSTRATE in Metachromatic Leukodystrophy?

3303

Genetics Flash Facts

Cerebroside sulfate

3304

Genetics Flash Facts

Q1653:What is the ACCUMULATED SUBSTRATE in Hurler's syndrome?

3305

Genetics Flash Facts

1. Heparan sulfate;2. Dermatan sulfate

3306

Genetics Flash Facts

Q1654:What is the ACCUMULATED SUBSTRATE in Hunter's syndrome?

3307

Genetics Flash Facts

1. Heparan sulfate;2. Dermatan sulfate

3308

Genetics Flash Facts

Q1655:What is the INHERITANCE of Fabry's disease?

3309

Genetics Flash Facts

XLR

3310

Genetics Flash Facts

Q1656:What is the INHERITANCE of Gaucher's disease?

3311

Genetics Flash Facts

AR

3312

Genetics Flash Facts

Q1657:What is the INHERITANCE of Niemann-Pick disease?

3313

Genetics Flash Facts

AR

3314

Genetics Flash Facts

Q1658:What is the INHERITANCE of Tay Sach's disease?

3315

Genetics Flash Facts

AR

3316

Genetics Flash Facts

Q1659:What is the INHERITANCE of Krabbe's disease?

3317

Genetics Flash Facts

AR

3318

Genetics Flash Facts

Q1660:What is the INHERITANCE of Metachromatic Leukodystrophy disease?

3319

Genetics Flash Facts

AR

3320

Genetics Flash Facts

Q1661:What is the INHERITANCE of Hurler's syndrome?

3321

Genetics Flash Facts

AR

3322

Genetics Flash Facts

Q1662:What is the INHERITANCE of Hunter's syndrome?

3323

Genetics Flash Facts

XLR;;"HUNTERS aim for the X";(XLR)

3324

Genetics Flash Facts

Q1663:What lysosomal storage dz has renal failure?

3325

Genetics Flash Facts

Fabry

3326

Genetics Flash Facts

Q1664:What lysosomal dz has optic atrophy; spasticity and early death?

3327

Genetics Flash Facts

Krabbe

3328

Genetics Flash Facts

Q1665:Lysosomal Dz that is compatible with a normal life usually?

3329

Genetics Flash Facts

Gaucher's Dz

3330

Genetics Flash Facts

Q1666:Lysosomal Dz w/ increase in sphingomyelin and cholesterol in reticuloendothelial and parenchymal cells?

3331

Genetics Flash Facts

Niemann-Pick Dz

3332

Genetics Flash Facts

Q1667:What lysosomal Dz has cherry-red spot on macula?

3333

Genetics Flash Facts

Tay-Sachs Dz;Take them in the Sack (the cherries)

3334

Genetics Flash Facts

Q1668:What lysosomal Dz has accumulation of sulfatide in brain; kidney; liver and peripheral nerves?

3335

Genetics Flash Facts

Metachromatic Leukodystrophy

3336

Genetics Flash Facts

Q1669:What enzyme is deficient in Fabry's Dz?

3337

Genetics Flash Facts

alfa-galactosidase

3338

Genetics Flash Facts

Q1670:What accumulates in Fabry's Dz?

3339

Genetics Flash Facts

ceramide trihexoside

3340

Genetics Flash Facts

Q1671:What mode of inheritane is Fabry's Dz?

3341

Genetics Flash Facts

X-linked

3342

Genetics Flash Facts

Q1672:What enzyme is deficient in Krabbe's?

3343

Genetics Flash Facts

beta-galactosidase

3344

Genetics Flash Facts

Q1673:What accumulates in Krabbe?

3345

Genetics Flash Facts

beta-galactocerebroside

3346

Genetics Flash Facts

Q1674:What enzyme is deficient in Krabbe?

3347

Genetics Flash Facts

beta-galatosidase

3348

Genetics Flash Facts

Q1675:What enzyme is deficient in Gaucher's Dz?

3349

Genetics Flash Facts

beta-Glucocerebrosidase

3350

Genetics Flash Facts

Q1676:What accumulates in Gaucher's?

3351

Genetics Flash Facts

glucocerebroside

3352

Genetics Flash Facts

Q1677:What enzyme is deficient in Niemann-Pick?

3353

Genetics Flash Facts

Sphyngomyelinase

3354

Genetics Flash Facts

Q1678:What accumulates in Neimann-Pick's?

3355

Genetics Flash Facts

sphingomyelin and cholesterol

3356

Genetics Flash Facts

Q1679:What enzyme is deficient in Tay-Sachs?

3357

Genetics Flash Facts

Hexosaminidase A

3358

Genetics Flash Facts

Q1680:WHat accumulates in Tay-Sach's Dz?

3359

Genetics Flash Facts

GM2 ganglioside

3360

Genetics Flash Facts

Q1681:What enzyme is deficient in Metachromatic Leukodystrophy?

3361

Genetics Flash Facts

ArylSulfatase A

3362

Genetics Flash Facts

Q1682:What accumulates in Metachromatic Leukodystrophy?

3363

Genetics Flash Facts

Sulfatide

3364

Genetics Flash Facts

Q1683:What enzyme is deficient in Hurler's Sx?

3365

Genetics Flash Facts

alpha-L-iduronidase

3366

Genetics Flash Facts

Q1684:What accumulates in Hurler's Sx?

3367

Genetics Flash Facts

Increase in dermatan sulfate

3368

Genetics Flash Facts

Q1685:What enzyme is deficient in Hunter's?

3369

Genetics Flash Facts

iduronate sulfatase

3370

Genetics Flash Facts

Q1686:What accumulates in Hunter's?

3371

Genetics Flash Facts

Heparan Sulfate

3372

Genetics Flash Facts

Q1687:What are the two Lysosomal Storage Dz that are Xlinked?

3373

Genetics Flash Facts

Fabry's X and Hunter's X

3374

Genetics Flash Facts

Q1688:What lysosomal Dz has corneal clouding and mental retardation?

3375

Genetics Flash Facts

Hurler's Sx

3376

Genetics Flash Facts

Q1689:What lysosomal Dz has mild mental retardation?

3377

Genetics Flash Facts

Hunter's Sx;the hunter needs to see what he is shooting; So NO corneal clouding;

3378

Genetics Flash Facts

Q1690:What lysosomal Dz has gargoyle facies?

3379

Genetics Flash Facts

Hurler's Dz

3380

Genetics Flash Facts

Q1691:What lysosomal dz has flaring of the distal femur? (Like Erlehnmeyer Flask)

3381

Genetics Flash Facts

Gaucher's Dz

3382

Genetics Flash Facts

Q1692:What two lysosomal Dz are associated with Jews?

3383

Genetics Flash Facts

Tay-Sach's and Gaucher's Dz

3384

Genetics Flash Facts

Q1693:Hormones dived into?

3385

Genetics Flash Facts

Water soluble;Lipid Soluble

3386

Genetics Flash Facts

Q1694:Water solubles have receptor where?

3387

Genetics Flash Facts

Membrane Receptor

3388

Genetics Flash Facts

Q1695:WHere is the receptor in lipid soluble hormones?

3389

Genetics Flash Facts

Inside the cell

3390

Genetics Flash Facts

Q1696:What hormones require phosphorylation?

3391

Genetics Flash Facts

Water Soluble

3392

Genetics Flash Facts

Q1697:How is gene expression controlled in Water Soluble?

3393

Genetics Flash Facts

cAMP response element binding (CREB) protein

3394

Genetics Flash Facts

Q1698:What proteins are used in Water Soluble Hormones?

3395

Genetics Flash Facts

Leucine Zipper

3396

Genetics Flash Facts

Q1699:What protein is used for Lipid Soluble Hormones?

3397

Genetics Flash Facts

Zinc Finger Protein

3398

Genetics Flash Facts

Q1700:What are the water soluble hormones?

3399

Genetics Flash Facts

Insulin ;Glucagon;Catecholamines (NE; EPi)

3400

Genetics Flash Facts

Q1701:What are examples of lipid soluble?

3401

Genetics Flash Facts

Steroids;Calcitriol ---> Vit D;Thyroxines (thinks is steroid);Retinoic Acid ----> Vit A.

3402

Genetics Flash Facts

Q1702:What do you think of with watersoluble hormones?

3403

Genetics Flash Facts

Male;Receptor Outside (penis);Zipper (Leucine Zipper)

3404

Genetics Flash Facts

Q1703:WHat do you think of with Lipid Soluble hormones?

3405

Genetics Flash Facts

Female;Receptor Inside;Zinc Finger Protein

3406

Genetics Flash Facts

Q1704:What receptors use Glucagon and Epinephrine?

3407

Genetics Flash Facts

cAMP pathway

3408

Genetics Flash Facts

Q1705:What are all the messenger involved in cAMP?

3409

Genetics Flash Facts

Gs Adenylate Cyclase ----> Protein Kinase ;Gi alpha2 beta2 2MAD

3410

Genetics Flash Facts

Q1706:What are pathway is used in Vasopressin and Epinephrine (alpha 1)?

3411

Genetics Flash Facts

PIP2;PIMP

3412

Genetics Flash Facts

Q1707:Gq involves?

3413

Genetics Flash Facts

HAMMV (hummer);Gq magazine;Think C or K;Phospholipase C;Protein kinase C;DAG; IP3; Ca+

3414

Genetics Flash Facts

Q1708:What pathway does Atrial Natriuretic Factor (ANF) and Nitric Oxide (NO) use?

3415

Genetics Flash Facts

cGMP

3416

Genetics Flash Facts

Q1709:What pathway does Insulin use?

3417

Genetics Flash Facts

INsulin; growth factors ;via Tyrosine Kinase

3418

Genetics Flash Facts

Q1710:What do you see in the PIMP system? (PIP2)

3419

Genetics Flash Facts

Gq magazine;Cicis; C C C;Phospholipase C;Protein Kinase C;Ca+

3420

Genetics Flash Facts

Q1711:Who activates the Ca+ release in the Endoplasmic Reticulum E.R.?

3421

Genetics Flash Facts

IP3 activates Ca+ release

3422

Genetics Flash Facts

Q1712:What does Ca+ activates what in the PIP2 system?

3423

Genetics Flash Facts

Protein Kinase C

3424

Genetics Flash Facts

Q1713:What membrane enzyme is used in the ANF or NO?

3425

Genetics Flash Facts

Guanylate Cyclase

3426

Genetics Flash Facts

Q1714:If you want to;

3427

Genetics Flash Facts

Use Guanylate Cyclase

3428

Genetics Flash Facts

Q1715:Guanylate cyclase activates what?

3429

Genetics Flash Facts

cGMP ;G is nice to get some;

3430

Genetics Flash Facts

Q1716:cGMP activates what?

3431

Genetics Flash Facts

Protein Kinase G

3432

Genetics Flash Facts

Q1717:What does Protein Kinase G do?

3433

Genetics Flash Facts

Relaxes Smooth Muscle;;Relax and ENjoy the RIDE!

3434

Genetics Flash Facts

Q1718:Where is nitrous oxide found?

3435

Genetics Flash Facts

Heme membrane

3436

Genetics Flash Facts

Q1719:HOw does insulin activate hormone receptors?

3437

Genetics Flash Facts

Via Tyrosine Kinase

3438

Genetics Flash Facts

Q1720:WHat do you find in the membrane for Insulin?

3439

Genetics Flash Facts

Two beta subunits;cross membrane;;2 membrane helix span;unlike ANF that has 1 membrane helix span

3440

Genetics Flash Facts

Q1721:What is unique about the cAMP and PIP2 system?

3441

Genetics Flash Facts

THey both have a 7 membrane helix span receptor

3442

Genetics Flash Facts

Q1722:What enzyme of the hormone receptor has only 1 membrane span?

3443

Genetics Flash Facts

ANF;guanylate cyclase

3444

Genetics Flash Facts

Q1723:What hormone receptor has 2 membrane helix span?

3445

Genetics Flash Facts

INsulin;Tyrosine Kinase

3446

Genetics Flash Facts

Q1724:Where does Nitrous Oxide (NO) come from? a.a.?

3447

Genetics Flash Facts

Arginine

3448

Genetics Flash Facts

Q1725:What are some drugs that increase NO?

3449

Genetics Flash Facts

nitroprusside;Nitroglycerine;Isosorbide dinitrate;Viagra (Sildenafil);Agina

3450

Genetics Flash Facts

Q1726:Where is glut 4 found?

3451

Genetics Flash Facts

Adipose;Muscle;Not Liver Glut-1

3452

Genetics Flash Facts

Q1727:What happens if there is a mutation that increases G protein?

3453

Genetics Flash Facts

Oncogenic;activation of ras (p21 monomeric);gsp (G2 alpha)

3454

Genetics Flash Facts

Q1728:What is involved in the p21ras oncogene?

3455

Genetics Flash Facts

Colon;Lung;Breast;Bladder ;ALL TUMORS!!!;liked to Tyrosine Kinase;G protein!!!

3456

Genetics Flash Facts

Q1729:WHat is the mechanism for glucocorticods to cause DM?

3457

Genetics Flash Facts

They increase PEPCK activity via response elements causing increase gluconeogenesis;increase in glucose---> DM;via Zinc Finger Proteins

3458

Genetics Flash Facts

Q1730:Which enzyme does Insulin activate in glucose related metabolism?

3459

Genetics Flash Facts

Glycogen Synthase;glucose is stored;glycogen is made;you are in a well-fed state;just ate

3460

Genetics Flash Facts

Q1731:Which enzyme is activated when glucagon is present?

3461

Genetics Flash Facts

Glycogen Phosphorylase is activated;degrages glycogen ---> glucose;increase the release of glucose;you are starving

3462

Genetics Flash Facts

Q1732:TCA cycle intermediates

3463

Genetics Flash Facts

Can I Keep Selling Sex For Money; Officer?;Citrate;Isocitrate;alpha-Ketoglutarate;SuccinylCoA;Succinate;Fumarate;Malate;Oxaloacetate

3464

Genetics Flash Facts

Q1733:Regulated glycolytic enzymes

3465

Genetics Flash Facts

Hexokinase (-G6P);Glucokinase (+insulin);PFK1 (-citrate ATP +AMP +F-2;6-BP);Pyruvate kinase (-Ala; -ATP; +F1;6-BP);Pyruvate dehydrogenase (-ATP; -NADH; -AcetylCoA)

3466

Genetics Flash Facts

Q1734:Regulated TCA cycle steps

3467

Genetics Flash Facts

Citrate synthetase (-ATP);Isocitrate dehydrogenase (+ADP; ATP; -NADH);Alpha-KG dehydrogenase (-NADH; -ATP; succinyl CoA)

3468

Genetics Flash Facts

Q1735:Lesch-Nyhan syndrome

3469

Genetics Flash Facts

HGPRT deficiency; can'd do purine salvage pathway; get uric aciduria. X-linked

3470

Genetics Flash Facts

Q1736:I cell disease

3471

Genetics Flash Facts

Lack of mannose-6-phosphate transfer enzyme in golgi network means can't tag lysosomal enzymes for traffic to lysosome. Get secreted instead->coarse facies; early death

3472

Genetics Flash Facts

Q1737:Energy from TCA cycle per acetyl CoA

3473

Genetics Flash Facts

3 NADH --> 9 ATP;1 FADH2 --> 2 ATP;1 GTP --> 1 ATP;12 ATP/cycle via oxidative phosphorylation

3474

Genetics Flash Facts

Q1738:Galactosemia

3475

Genetics Flash Facts

Mild: Galactokinase deficiency->galactitol->childhood cataracts;Severe: Gal-1P uridyl transferase deficiency-> very high galactitol->liver damage; galactosemia; galacturia; cataracts; mental retardation ;Tx both w/glucose & lactose free diet

3476

Genetics Flash Facts

Q1739:Fructosuria

3477

Genetics Flash Facts

Fructokinase deficiency: benign fructosuria;Fructose intolerance: Lack of aldolase B to convert F1P to DHAP and glyceraldehyde->vomiting w/fructose load; mental retardation; etc.

3478

Genetics Flash Facts

Q1740:Cofactors for PDH and a-KGDH

3479

Genetics Flash Facts

Vitamin B1->thiamine->TPP;Vitamin B2->riboflavin>FAD+;Vitamin B3->niacin->NAD+;Vitamin B5>pentothenate->CoA;Lipoic acid

3480

Genetics Flash Facts

Q1741:Cori cycle

3481

Genetics Flash Facts

1) Anaerobic glycolysis in muscle to pyruvate;2)Pyruvate -> lactate to regenerate NAD+;3) Lactate to liver via blood;4) Lacate converted back to pyruvate and then to glucose by gluconeogenesis (6 ATP);5) Glucose sent back to muscle in blood

3482

Genetics Flash Facts

Q1742:Energy yield of anaerobic glycolysis

3483

Genetics Flash Facts

2 ATP;Reducing equivalents in NADH used to convert pyruvate to lactate via LDH to regenerate NAD+ to keep running glycolysis

3484

Genetics Flash Facts

Q1743:Hexokinase vs glucokinase

3485

Genetics Flash Facts

Hexokinase: all cells; inhib'd by G6P;Glucokinase: liver & islet cells; stim'd by insulin with lower Km but higher Vmax>glucose storage and

3486

Genetics Flash Facts

Q1744:SAM

3487

Genetics Flash Facts

S-adenosyl methionine;ATP+Met-->SAM->>Homocysteine;Need B12 & folate to regenerate methionine from ATP;Regeneration of methionine is how B12 converts dietary folate into form usable by purine synth and thymidylate synthase

3488

Genetics Flash Facts

Q1745:GPCRs that signal via Gs

3489

Genetics Flash Facts

Gs stims cAMP synth;B1->inotrope/chronotrope;B2->SMC relaxation;H2->stomach;V2->aquaporin insertion in kidney;D1

3490

Genetics Flash Facts

Q1746:GPCRs that signal via Gq

3491

Genetics Flash Facts

Gq > PLC > DAG+IP3 > PKC & Ca2+;H1->allergy;a1>vasoconstrict;V1->vasoconstrict;M1;M3

3492

Genetics Flash Facts

Q1747:GPCRs that signal via Gi

3493

Genetics Flash Facts

Gi inhibs cAMP synth;M2;a2;D2

3494

Genetics Flash Facts

Q1748:Collagen types

3495

Genetics Flash Facts

Type 1: classic (bone; skin);Type 2: cartilage/joints; hyaline;Type 3: Reticulin (skin etc); granulation tissue;Type 4: basement membranes

3496

Genetics Flash Facts

Q1749:Electron transport chain

3497

Genetics Flash Facts

NADH > e- > ;Complex I > H+ ;CoQ ;FADH2 > e- > Complex II >CoQ;complex III > H+;Cyt C;Complex IV > H+ + O2;H+ > ATP synthase > ATP

3498

Genetics Flash Facts

Q1750:Oligomycin

3499

Genetics Flash Facts

Inhibs ATP synthase > can't dissipate H+ gradient > ETC machinery gets backed up and stopped > ROS

3500

Genetics Flash Facts

Q1751:2;4-dinitrophenol

3501

Genetics Flash Facts

Allows H+ to leak out of mitochondrial matrix > uncouples electron transport from ATP synthesis gradient

3502

Genetics Flash Facts

Q1752:Rotenone

3503

Genetics Flash Facts

Inhibs e- transport > stops ETC > reduces proton gradient

3504

Genetics Flash Facts

Q1753:Cyanide

3505

Genetics Flash Facts

Inhibs e- transport > stops ETC > reduces proton gradient

3506

Genetics Flash Facts

Q1754:Irreversible gluconeogenesis enzymes

3507

Genetics Flash Facts

Pyruvate carboxylase (mitochondria;PEP carboxykinase;Fructose-2;6-bisphosphatase;Glucose-6phosphatase (liver only)

3508

Genetics Flash Facts

Q1755:von Gierke's disease

3509

Genetics Flash Facts

Type I glycogen storage disease;Glucose-6-phosphatase deficiency;Liver can't export glucose;-Glycogen accum>hepatomegaly;-Hypoglycemia;-Lactic acidosis

3510

Genetics Flash Facts

Q1756:Essential amino acids

3511

Genetics Flash Facts

PVT TIM HALL;Phenylalanine;Valine;Tryptophan;Threonine;Isoleucin e;Methionine;Histidine;Arginine;Leucine;Lysine

3512

Genetics Flash Facts

Q1757:PVT TIM HALL

3513

Genetics Flash Facts

Phenylalanine;Valine;Tryptophan;Threonine;Isoleucine;Methi onine;Histidine;Arginine;Lysine;Leucine

3514

Genetics Flash Facts

Q1758:Purely ketogenic amino acids

3515

Genetics Flash Facts

Leucine & lysine only. Both are also essential

3516

Genetics Flash Facts

Q1759:Purely glucogenic essential AA:

3517

Genetics Flash Facts

V-MATH;Valine; methionine; arginine; threonine; histidine

3518

Genetics Flash Facts

Q1760:Urea cycle

3519

Genetics Flash Facts

Ordinarily; Careless Crappers Are Also Frivolous About Urination;Ornithine;Carbamoyl phosphate;Citruline;Asparatate;Arginosuccinate;Fumarate;Ar ginine;Urea

3520

Genetics Flash Facts

Q1761:Black urine

3521

Genetics Flash Facts

Alkaptonuria: can't break down homogentisic acid; a metabolite of tyrosine

3522

Genetics Flash Facts

Q1762:Musty odor; pale skin; mental retardation

3523

Genetics Flash Facts

Phenylketonuria: can't convert phenylalanine (musty and retarded) to tyrosine (pale)

3524

Genetics Flash Facts

Q1763:Cystinuria frequency

3525

Genetics Flash Facts

4.902777778

3526

Genetics Flash Facts

Q1764:Cystinuria defect

3527

Genetics Flash Facts

COLA;Defect of AA transporter responsible for resorption of Cysteine; Ornithine; Lysine & Arginine from proximal tubule

3528

Genetics Flash Facts

Q1765:Components of sucrose

3529

Genetics Flash Facts

Fructose + glucose

3530

Genetics Flash Facts

Q1766:Components of lactose

3531

Genetics Flash Facts

GaLactose + glucose

3532

Genetics Flash Facts

Q1767:Function of ApoA1

3533

Genetics Flash Facts

Cofactor for LCAT

3534

Genetics Flash Facts

Q1768:Function of ApoB

3535

Genetics Flash Facts

Binds LDLR

3536

Genetics Flash Facts

Q1769:Function of ApoCII

3537

Genetics Flash Facts

Cofactor for lipoprotein lipase

3538

Genetics Flash Facts

Q1770:Function of ApoE

3539

Genetics Flash Facts

Cofactor for lipoprotein binding to receptor for uptake

3540

Genetics Flash Facts

Q1771:Cherry red spot

3541

Genetics Flash Facts

Tay-Sachs disease; deficiency of hexosaminidase; so can't degrade GM2 ganglioside;Also Nieman Pick disease; deficiency of sphingomyelinase

3542

Genetics Flash Facts

Q1772:fat soluble

3543

Genetics Flash Facts

ADEK; absorption dependent on gut (ileum) and pancreas;toxicity more common because they accumulate in fat;malabsorption can cause def

3544

Genetics Flash Facts

Q1773:water soluble

3545

Genetics Flash Facts

B1; B2; B3; B5; B6; B12; C; biotin; folate;all wash out easily from body except B12 which is stored in liver

3546

Genetics Flash Facts

Q1774:A def

3547

Genetics Flash Facts

night blindness; dry skin

3548

Genetics Flash Facts

Q1775:A function; exceess

3549

Genetics Flash Facts

constituent of visual pigment; arthralgias; fatigue; headahce; skin change; sore throat; alopecia;found in leafy veggies

3550

Genetics Flash Facts

Q1776:B1 (thiamine) def

3551

Genetics Flash Facts

Beriberi and WK syndrome; seen in alcoholism and malnutrition;dry: polyneuritis;wet: high output CF

3552

Genetics Flash Facts

Q1777:B1 function

3553

Genetics Flash Facts

cofactor for oxidative decarboxy of a-ketoacids; cofactor for transketolase in HMP shunt

3554

Genetics Flash Facts

Q1778:B2 (riboflavin) def

3555

Genetics Flash Facts

angular stomatitis; cheilosis; corneal vascularization

3556

Genetics Flash Facts

Q1779:B2 function

3557

Genetics Flash Facts

cofactor in ox-red;FMN; FAD

3558

Genetics Flash Facts

Q1780:B3 def

3559

Genetics Flash Facts

pellagra can be caused by Hartnup disease (decreased tryp absorption); malignant carcinoid syndrome and INH;sxs: diarrhea; dermatitis; dementia

3560

Genetics Flash Facts

Q1781:B3 function

3561

Genetics Flash Facts

constituent of NAD; NADP;derived from tryp using B6

3562

Genetics Flash Facts

Q1782:B6 (pyridoxine) def

3563

Genetics Flash Facts

convulsions; hyperirritability (def induced by INH and OCP); peripheral neuropathy

3564

Genetics Flash Facts

Q1783:B5 function

3565

Genetics Flash Facts

coverted to pyridoxal phosphate - transaminatiors (ALT; AST); decarbox; heme synthesis

3566

Genetics Flash Facts

Q1784:B12 (cobalamin) def

3567

Genetics Flash Facts

macrocytic; megaloblastic anemia; neuro sxs (optic neuropathy; subacute combined degeneration; parasthesia); glossitis;def caused by: malabsorption; lack of IF; or absence of terminal ileum;Schilling test to detect def;abnormal myelin seen

3568

Genetics Flash Facts

Q1785:B12 function

3569

Genetics Flash Facts

cofactor for homocysteine methylation (transfers CH3 groups);stored in liver;very large reserve;synthesized by microorganisms

3570

Genetics Flash Facts

Q1786:Folic acid def

3571

Genetics Flash Facts

most common vitamin def; macrocytic; megaloblastic anemia;no neuro sxs

3572

Genetics Flash Facts

Q1787:folic acid function

3573

Genetics Flash Facts

coenzyme (tetrahydrofolate) for 1 carbon transfer; involved in Me reactions;important for synthesis of nitrogenous bases in DNA and RNA

3574

Genetics Flash Facts

Q1788:Biotin def

3575

Genetics Flash Facts

dermitits; enteritis; caused by antiobiotic use; ingestion of raw eggs

3576

Genetics Flash Facts

Q1789:Biotin function

3577

Genetics Flash Facts

cofactor for caboxylations;pyruvate-->OAA;ACOA->MCoA;PCOA-->MMCoA

3578

Genetics Flash Facts

Q1790:Vit C def

3579

Genetics Flash Facts

scurvy- swollen gums; bruising; anemia; poor wound healing

3580

Genetics Flash Facts

Q1791:Vit C funciton

3581

Genetics Flash Facts

necessary for hydroxylation of proline and lysine in collagen synthesis;facilitates iron absorption by keeping iron in Fe2 reduced state;necessary cofactor for DA-->NE

3582

Genetics Flash Facts

Q1792:Vit D def

3583

Genetics Flash Facts

rickets in children (bending bones); osteomalacia in adults (soft bones); hypocalcemic tetany

3584

Genetics Flash Facts

Q1793:function vit D

3585

Genetics Flash Facts

increase intestinal absorption of Ca and P

3586

Genetics Flash Facts

Q1794:vit D excess

3587

Genetics Flash Facts

hypercalcemia; loss of appetite; stupor;seen in sarcoidosisdisease where epithelial macrophages convert vit D into active form

3588

Genetics Flash Facts

Q1795:storage form of vitamin D

3589

Genetics Flash Facts

25-OH D3

3590

Genetics Flash Facts

Q1796:active form of vit D

3591

Genetics Flash Facts

1; 25 (OH)2 D3

3592

Genetics Flash Facts

Q1797:vit D from milk

3593

Genetics Flash Facts

ergocalciferol; consumed in milk D2

3594

Genetics Flash Facts

Q1798:vit D from sun skin

3595

Genetics Flash Facts

cholecalciferol D3

3596

Genetics Flash Facts

Q1799:Vit E def

3597

Genetics Flash Facts

increased fragility of erythrocytes; neurodysfunction

3598

Genetics Flash Facts

Q1800:vit E function

3599

Genetics Flash Facts

antioxidant (protects erythrocytes from hemolysis)

3600

Genetics Flash Facts

Q1801:vit K def

3601

Genetics Flash Facts

neonatal hemorrhage with increased PT and PTT but normal bleeding time because neonates have sterile intestines and are unable to synthesize vit K

3602

Genetics Flash Facts

Q1802:vit K function

3603

Genetics Flash Facts

catalyzes gamma carboxylation of glutamic acid residues on various proteins concerned with blood clotting;synthesized by intestinal flora

3604

Genetics Flash Facts

Q1803:K dependent clotting factors

3605

Genetics Flash Facts

II; VII; IX; X;protein C and S;warfarin is vitamin K antagonist

3606

Genetics Flash Facts

Q1804:Zinc deficiency

3607

Genetics Flash Facts

delayed wound healing; hypogonadism; decreased adult hair; may predispose to alcoholic cirrhosis

3608

Genetics Flash Facts

Q1805:Clinical characteristics of WK syndrome

3609

Genetics Flash Facts

ocular distrubances; nystagmus;gait ataxia;mental dysfunction (confusion; apathy; listlessness; disorientation);Korsakoff psychosis- retrograde recall; inability ot acquire new info

3610

Genetics Flash Facts

Q1806:ntureint def assoc with cheilosis; glossitis; stomatitis

3611

Genetics Flash Facts

iron; riboflavin; niacin; folate; B12

3612

Genetics Flash Facts

Q1807:how does niacin help tx type IIb hyperlipoproteinemia

3613

Genetics Flash Facts

inhibits lipolysis in adipose-->less circulating free fatty acids --> less fatty acids to liver --> less VLDL --> less LDL

3614

Genetics Flash Facts

Q1808:INH leads to deficiency in

3615

Genetics Flash Facts

B6 and B3

3616

Genetics Flash Facts

Q1809:folic acid is involved in synthesis of;

3617

Genetics Flash Facts

purines (A and G) and thymine

3618

Genetics Flash Facts

Q1810:where is B12 absorbed

3619

Genetics Flash Facts

distal ileum;Crohns and sprue can cause absorption problems

3620

Genetics Flash Facts

Q1811:what organs help absorb B12

3621

Genetics Flash Facts

salivary glands; stomach; pancreas; distal ileum

3622

Genetics Flash Facts

Q1812:antioxidant vitamins

3623

Genetics Flash Facts

C; E and A

3624

Genetics Flash Facts

Q1813:how does vit D work at the cell

3625

Genetics Flash Facts

interacts with target cell DNA to selectively stimulate or repress gene stimulation

3626

Genetics Flash Facts

Q1814:first vit D hydroxylation

3627

Genetics Flash Facts

25; in liver

3628

Genetics Flash Facts

Q1815:second vit D hydroxylation

3629

Genetics Flash Facts

1; in kidney

3630

Genetics Flash Facts

Q1816:What drug block DNA Topoisomerase II? Prok? Eukar?

3631

Genetics Flash Facts

Prok: nalidixic acid/quinolones;Eukaryotes: etoposide ;and teniposide

3632

Genetics Flash Facts

Q1817:Which cells contain telomerase? What are they linked with?

3633

Genetics Flash Facts

embryonic; germ cells; stem cells except somatic cells;cancer/malignant cells have a high level of telomerase;They are linked with apoptosis

3634

Genetics Flash Facts

Q1818:What is another name for topoisomerase II in PROK?

3635

Genetics Flash Facts

DNA gyrase

3636

Genetics Flash Facts

Q1819:What nucleic acid has the most methyl groups?

3637

Genetics Flash Facts

Cytosine

3638

Genetics Flash Facts

Q1820:What happens when you take a methyl out of Cytosine?

3639

Genetics Flash Facts

It becomes demethylated to Uracil

3640

Genetics Flash Facts

Q1821:During what cell cycle does DNA repair occur?

3641

Genetics Flash Facts

G1 Phase

3642

Genetics Flash Facts

Q1822:When does mismatch repair occur? (phase)

3643

Genetics Flash Facts

G2 phase

3644

Genetics Flash Facts

Q1823:What does p53 gene encode for?

3645

Genetics Flash Facts

Protein that prevents a cell w/ damaged DNA from entering the S phase

3646

Genetics Flash Facts

Q1824:What disease is associated with p53 gene?

3647

Genetics Flash Facts

Li Fraumeni Syndrome and many solid tumors

3648

Genetics Flash Facts

Q1825:What is ATM gene?

3649

Genetics Flash Facts

ATM encodes for a kinase needed for p53 to work

3650

Genetics Flash Facts

Q1826:What is ATM gene associated with?

3651

Genetics Flash Facts

ataxia telangiectasia

3652

Genetics Flash Facts

Q1827:What is ataxia telangiectasia?

3653

Genetics Flash Facts

hypersensitivity to X-rays;predisposition to lymphomas

3654

Genetics Flash Facts

Q1828:What is BRCA1 associated with?

3655

Genetics Flash Facts

Breast; Prostate and Ovarian Cancer

3656

Genetics Flash Facts

Q1829:What is BRCA 2 associated with?

3657

Genetics Flash Facts

Breast cancer

3658

Genetics Flash Facts

Q1830:What are BRCA1 and 2 associated with?

3659

Genetics Flash Facts

required for p53 activity

3660

Genetics Flash Facts

Q1831:What happens when UV light damages DNA? What disease is prone to this damage? Why?

3661

Genetics Flash Facts

it crease thyamine dimers;- patients with Xeroderma Pigementosa;- they lack excision endonuclease

3662

Genetics Flash Facts

Q1832:What does Xeroderma Pig. consists of?

3663

Genetics Flash Facts

- Extreme UV sensitivity;- excessive freckling;- multiple skin cancers;- corneal ulcerations

3664

Genetics Flash Facts

Q1833:What are two diseases that are associated with DNA repair?

3665

Genetics Flash Facts

Xeroderma and Hereditary Nonpolyposis Colorectal Cancer (HNCC)

3666

Genetics Flash Facts

Q1834:What drug inhibits DNA dependent RNA polymerase?

3667

Genetics Flash Facts

Rifampin

3668

Genetics Flash Facts

Q1835:What drug binds to DNA preventing its transcription?

3669

Genetics Flash Facts

Actinomycin D

3670

Genetics Flash Facts

Q1836:What drug inhibits RNA polymerase II?

3671

Genetics Flash Facts

amanitin (from mushrooms)

3672

Genetics Flash Facts

Q1837:Which RNA do RNA Pol 1;2 and 3 code for?

3673

Genetics Flash Facts

1 2 and 3 rhyme with R M T;respectively;1 rRNA 2 mRNA 3 tRNA

3674

Genetics Flash Facts

Q1838:What is similar to sigma factor in Eukaryotes?

3675

Genetics Flash Facts

TFIID; transcription factors II;they bind before RNA Pol; just like Sigma factors

3676

Genetics Flash Facts

Q1839:How does RNA pol know where to start?

3677

Genetics Flash Facts

- sigma factor needs to find promoter region;- two consensus sequences are recognized as TATA BOX

3678

Genetics Flash Facts

Q1840:How long does sigma stay bound to DNA?

3679

Genetics Flash Facts

As soon as transcription begins; sigma is released

3680

Genetics Flash Facts

Q1841:How does mRNA know when to stop trasncription?

3681

Genetics Flash Facts

Rho-independent termination occurs when newly formed RNA folds on itself to form GC-rich hairpin loop

3682

Genetics Flash Facts

Q1842:How does Rho-dependet termination work?

3683

Genetics Flash Facts

Rho displaces RNA pol from the 3' end of the RNA once it has paused at the termination site

3684

Genetics Flash Facts

Q1843:What binds to Shine-Dalgarno sequence?

3685

Genetics Flash Facts

Ribosomes

3686

Genetics Flash Facts

Q1844:Where are Shine-Dalgarno sequences located?

3687

Genetics Flash Facts

5' end

3688

Genetics Flash Facts

Q1845:What is unique about prokaryotic transcription and translation?

3689

Genetics Flash Facts

They can both start at the same time with the help of ShineDalgarno sequences which allow ribosomes to hook on and start the translation before transcription is done

3690

Genetics Flash Facts

Q1846:What is Shine-Dalgarno?

3691

Genetics Flash Facts

Shine-Dalgarno sequences lets prokaryotes shine! They can do 2 things at the same time! Transcribe and TRANSLATE!

3692

Genetics Flash Facts

Q1847:What are the three STOP codons?

3693

Genetics Flash Facts

UAG;UAA;UGA;U Are Gone;U Are Away;U Go Away

3694

Genetics Flash Facts

Q1848:What is the poly-A tail added for?

3695

Genetics Flash Facts

1) protect from rapid degradation;2) transport to cytoplasm

3696

Genetics Flash Facts

Q1849:What is added at the 5' end of the transcribed mRNA?

3697

Genetics Flash Facts

It is actually hnRNA and a methylguanosine cap Me-Gppp is added to the 5' end

3698

Genetics Flash Facts

Q1850:What is the function of the methyl guanosine cap?

3699

Genetics Flash Facts

It helps protect the mRNA chain from degradation

3700

Genetics Flash Facts

Q1851:Where is the poly A tail added?

3701

Genetics Flash Facts

3' end

3702

Genetics Flash Facts

Q1852:What can you say about the length of the poly A tail?

3703

Genetics Flash Facts

The longer the more stable the mRNA (hnRNA)

3704

Genetics Flash Facts

Q1853:What is another name for spliceosome?

3705

Genetics Flash Facts

snRNP; SNURP

3706

Genetics Flash Facts

Q1854:What is the function of spliceosomes?

3707

Genetics Flash Facts

They excise introns and leave only exons to be expressed

3708

Genetics Flash Facts

Q1855:What disease has a problem in spliceosomes/snRNP?

3709

Genetics Flash Facts

B-thatlassemia since mutations interfere with the splicing of Beta-Globin mRNA

3710

Genetics Flash Facts

Q1856:How are the introns degraded?

3711

Genetics Flash Facts

They are degraded in a lariat structure and excised by spliceosomes

3712

Genetics Flash Facts

Q1857:How can you calculate how many introns you have?

3713

Genetics Flash Facts

I=E-1;If you have 4 exons;Then you have I=4-1;I=3; 3 introns

3714

Genetics Flash Facts

Q1858:Where is the activated amino acid in a tRNA?

3715

Genetics Flash Facts

at the 3' end

3716

Genetics Flash Facts

Q1859:How does tRNA accomplish its lariat shape (loop/cloverleaf)?

3717

Genetics Flash Facts

it has weird bases like;D;T;Pseudouridine

3718

Genetics Flash Facts

Q1860:Where is the anticodon found in the tRNA?

3719

Genetics Flash Facts

in the middle of the loop;center loop in between 5' and 3' ends

3720

Genetics Flash Facts

Q1861:How do you know a protein is marked for destruction?

3721

Genetics Flash Facts

It has been ubiquiniated by ubiquitin;Usually because of misfolding

3722

Genetics Flash Facts

Q1862:Who translates proteins for cytoplasm and mitochondria?

3723

Genetics Flash Facts

free cytoplasmic ribosomes

3724

Genetics Flash Facts

Q1863:Who transtalates proteins for secreted proteins; membrane proteins; and lysosomas enzymes?

3725

Genetics Flash Facts

Rough E.R.

3726

Genetics Flash Facts

Q1864:How can you make a protein to be delivered to the R.E.R.?

3727

Genetics Flash Facts

N-terminal hydrophobic signal sequence has to be added to be secreted or placed in the membranes

3728

Genetics Flash Facts

Q1865:How do you direct a prtoein to go inside a lysosome?

3729

Genetics Flash Facts

It is phosphorylated with a mannose residue in the R.E.R;usually this protein is an enzyme to be delivered to the lysosome

3730

Genetics Flash Facts

Q1866:What happens to misfolded proteins?

3731

Genetics Flash Facts

They are mark with ubiquitin to be destroyed by proteosomes;you will be liquidated!!!;Ubiquinated!!!!

3732

Genetics Flash Facts

Q1867:What are proteosomes?

3733

Genetics Flash Facts

They are large cytoplasmic complexes that digest damaged proteins

3734

Genetics Flash Facts

Q1868:What enzyme is deficient in Fabry's Dz?

3735

Genetics Flash Facts

alpha-galactosidase A

3736

Genetics Flash Facts

Q1869:What enzyme is deficient in Krabbe's Dz?

3737

Genetics Flash Facts

BB for beta-galactosidase

3738

Genetics Flash Facts

Q1870:What enzyme is deficient in Gaucher's Dz?

3739

Genetics Flash Facts

beta-glucocerebrosidase;(It is in the center of the reactions)

3740

Genetics Flash Facts

Q1871:What enzyme is deficient in Niemann-Pick's Dz?

3741

Genetics Flash Facts

Sphingomyelinase

3742

Genetics Flash Facts

Q1872:What enzyme is deficient in Metachromic Leukodystrophy?

3743

Genetics Flash Facts

Arylsulfatase A

3744

Genetics Flash Facts

Q1873:What enzyme is deficient in Tay Sachs Dz?

3745

Genetics Flash Facts

Hexosaminidase A

3746

Genetics Flash Facts

Q1874:What accumulates from Fabry's Dz?

3747

Genetics Flash Facts

ceramide trihexoside

3748

Genetics Flash Facts

Q1875:What is the finding in Fabry's Dz?

3749

Genetics Flash Facts

renal failure

3750

Genetics Flash Facts

Q1876:What accumlulates in Krabbe's Dz?

3751

Genetics Flash Facts

galactocerebroside in the brain

3752

Genetics Flash Facts

Q1877:What is the finding in Krabbe's Dz?

3753

Genetics Flash Facts

Optic atrophy;spasticity;early death;The krabbe got your eyes!

3754

Genetics Flash Facts

Q1878:What accumlulates in Gaucher's Dz?

3755

Genetics Flash Facts

glucocerebroside;- brain;- liver;- spleen;- bone marrow;G is for Glucocerebrosidase

3756

Genetics Flash Facts

Q1879:What accumlulates in Neimann Pick's Dz?

3757

Genetics Flash Facts

sphingomyelin and cholesterol;No man Picks his nose with hiSPHINGER

3758

Genetics Flash Facts

Q1880:Wnat are the findings in Neimann Pick Dz?

3759

Genetics Flash Facts

increase cholesterol and sphyhingomyelin in reticuloendothelial and parenchymal cells;- Patients die by age 3

3760

Genetics Flash Facts

Q1881:What accumlulates in Tay Sachs Dz?

3761

Genetics Flash Facts

GM2 ganglioside 2

3762

Genetics Flash Facts

Q1882:What are the findings in Tay Sachs Dz?

3763

Genetics Flash Facts

Cherry-red spot on macula;1:30 carrier in European Jews;Death by age 3;Got a Sach of Cherries in your Macula

3764

Genetics Flash Facts

Q1883:What accumlulates in Metachromatic Leukodystrophy?

3765

Genetics Flash Facts

sulfatide in;- brain;- kidney;- liver;- peripheral nerves

3766

Genetics Flash Facts

Q1884:Which lysosomal storage diseases (of the sphingolipidoses) are autonomal recessive?

3767

Genetics Flash Facts

All except Fabry's!!!

3768

Genetics Flash Facts

Q1885:What lysosomal storage disease are x-linked?

3769

Genetics Flash Facts

sphingolipidosis: Fabry's;mucopolysaccharidoses: Hunter's;Hunter's hit the X

3770

Genetics Flash Facts

Q1886:What mucopolysacharidose Dz has no corneal clouding?

3771

Genetics Flash Facts

Hunter's;They need to see what they hunt!

3772

Genetics Flash Facts

Q1887:What enzyme is deficient in Hurler's Dz?

3773

Genetics Flash Facts

alpha-L-iDURONidase

3774

Genetics Flash Facts

Q1888:What enzyme is deficient in Hunter's Dz?

3775

Genetics Flash Facts

iDURONate sulfatase

3776

Genetics Flash Facts

Q1889:What increases in Hurler's Sx?

3777

Genetics Flash Facts

heparan and dermatan sulphate;mucopolysaccharides

3778

Genetics Flash Facts

Q1890:What are the signs of Hurler's Sx?

3779

Genetics Flash Facts

Halted growth ;Progressive mental retardation ;Thick; coarse facial features with low nasal bridge ;Cloudy corneas ;Deafness ;Joint disease; including stiffness ;Heart value problems ;Abnormal bones of spine and claw hand

3780

Genetics Flash Facts

Q1891:How do we screen for Hurler's Sx?

3781

Genetics Flash Facts

Urine Heparan and Dermatan sulfate

3782

Genetics Flash Facts

Q1892:What is a term associated with Hurler's Sx?

3783

Genetics Flash Facts

Gargoylism since there are facial deformities

3784

Genetics Flash Facts

Q1893:What signs and symtoms are associated with Hunter's Sx?

3785

Genetics Flash Facts

protuberant abdomen; claw hands; excessive hair growth; coarsening of the face with grotesque facial features; retarded growth; and behaviour problems.

3786

Genetics Flash Facts

Q1894:Which syndrom is severe? Hurler or Hunter?

3787

Genetics Flash Facts

Hurler's Syndrome ;It is termed MPS I;Hunter is MPS II

3788

Genetics Flash Facts

Q1895:What amino acid is unique to collagen?

3789

Genetics Flash Facts

Hydroxyproline

3790

Genetics Flash Facts

Q1896:Where does glycosylation occur?

3791

Genetics Flash Facts

E.R. and Golgi apparatus

3792

Genetics Flash Facts

Q1897:Which enzymes are requiered to make collagen?

3793

Genetics Flash Facts

proline and lysine hydroxylases

3794

Genetics Flash Facts

Q1898:What vitamin is needed to make collagen?

3795

Genetics Flash Facts

Vitamin C;- Hydroxylates Proline and Lysine in the RER

3796

Genetics Flash Facts

Q1899:What are some co-factors of lysyl oxidase?

3797

Genetics Flash Facts

O2 and Copper (Cu)

3798

Genetics Flash Facts

Q1900:What Dz results from deficiency of Lysyl Oxidase and why?

3799

Genetics Flash Facts

Deficient Copper (Cu2+);Menke's Dz is a genetic deffect that decrease collagen synthesis

3800

Genetics Flash Facts

Q1901:What enzyme is deficient in Ehler's Danlos?

3801

Genetics Flash Facts

Lysine Hydroxylase

3802

Genetics Flash Facts

Q1902:What are the signs and symptoms of Menke's Dz?

3803

Genetics Flash Facts

Depigmented (steely) hair;Arterial tortuosity; rupture;Cerebral degeneration;Osteoporosis

3804

Genetics Flash Facts

Q1903:What collagen is affected in Osteogenesis Imperfect?

3805

Genetics Flash Facts

Type I for bONE

3806

Genetics Flash Facts

Q1904:What do you see in patients with Osteogenesis Imperfecta?

3807

Genetics Flash Facts

skeletal deformities;fractures;blue sclera

3808

Genetics Flash Facts

Q1905:What other disease is involved in Copper usage?

3809

Genetics Flash Facts

Wilson's Dz but it is a Copper (Cu2+) toxicity

3810

Genetics Flash Facts

Q1906:What are some symptoms of Wilson's Dz?

3811

Genetics Flash Facts

Liver Cirrhosis;Cu damages nerves and causes Brown KaisserFleischner Rings

3812

Genetics Flash Facts

Q1907:What inhibits eEF-2? Elongation factor 2 in Eurkaryotes

3813

Genetics Flash Facts

Diphtheria and Pseudomonas Toxins

3814

Genetics Flash Facts

Q1908:What inhibits protein translation in Eukaryotes?

3815

Genetics Flash Facts

Diphteria and Pseudomonas

3816

Genetics Flash Facts

Q1909:Where do Diphtheria and Pseudomonas act?

3817

Genetics Flash Facts

eEF-2 is inhibited

3818

Genetics Flash Facts

Q1910:How many ATPs high energy bonds are needed to translate an amino acid?

3819

Genetics Flash Facts

4 Total for each amino acid;breakdown;2 ATP for charging;1 GTP for initiation;1 GTP for Elongation

3820

Genetics Flash Facts

Q1911:What is the antibiotic of choice for pertussis?

3821

Genetics Flash Facts

Erythromycin; blocks transLOcation;macrOLide

3822

Genetics Flash Facts

Q1912:What results in Menkes Dz?

3823

Genetics Flash Facts

- Fragile bones;- Fragile blood vessels;from poorly crosslinked connective tissue

3824

Genetics Flash Facts

Q1913:What blocks ADP ribosylation of EF-2?

3825

Genetics Flash Facts

Diphtheria and Pseudomonas

3826

Genetics Flash Facts

Q1914:What is an operon?

3827

Genetics Flash Facts

group of proteins required for a particular metabolic function

3828

Genetics Flash Facts

Q1915:Where is the regulatory region in Prokaryotes?

3829

Genetics Flash Facts

Upstream on the 5' end

3830

Genetics Flash Facts

Q1916:What kind of mRNA does the operon produce?

3831

Genetics Flash Facts

Polycistronic mRNA

3832

Genetics Flash Facts

Q1917:What two ways of transcriptional control exist in prokaryotes?

3833

Genetics Flash Facts

regulation of activator and repressor proteins;Attenuation

3834

Genetics Flash Facts

Q1918:Where do we find Attenuation?

3835

Genetics Flash Facts

Histidine Operon

3836

Genetics Flash Facts

Q1919:What model do we use for activator and repressor proteins?

3837

Genetics Flash Facts

Lac Operon

3838

Genetics Flash Facts

Q1920:What two regulatory proteins exist in the Lac Operon Control?

3839

Genetics Flash Facts

lac repressor protein;c-AMP-dependent activator protien (CAP)

3840

Genetics Flash Facts

Q1921:What does the lac operon sense?

3841

Genetics Flash Facts

glucose is preferred but in the absence lactose is taken as energy

3842

Genetics Flash Facts

Q1922:What regulates the CAP?

3843

Genetics Flash Facts

cAMP levels;if glucose is low; cAMP increases and activates it

3844

Genetics Flash Facts

Q1923:What happens to the lactose operon if glucose is present?

3845

Genetics Flash Facts

it is shutdown;glucose decreases cAMP;so CAP doesn't bind to CAP site

3846

Genetics Flash Facts

Q1924:When does CAP bind to CAP site?

3847

Genetics Flash Facts

when glucose is low since cAMP is high

3848

Genetics Flash Facts

Q1925:When is the repressor protein made?

3849

Genetics Flash Facts

Always since it is embedded in the mRNA sequence

3850

Genetics Flash Facts

Q1926:What does lactose do to the lac operon?

3851

Genetics Flash Facts

lactose induces gene expression since it prevents the repressor protein from binding to the operator sequence

3852

Genetics Flash Facts

Q1927:If lactose is high and glucose is low what happens?

3853

Genetics Flash Facts

1) lactose binds to repressor and stimulates gene expresssion;2) cAMP is high so it binds to CAP protein and

3854

Genetics Flash Facts

Q1928:When does the lactose operon stop sequence?

3855

Genetics Flash Facts

when the repressor protein is bound to the operator

3856

Genetics Flash Facts

Q1929:When is high expression of the lac operon found?

3857

Genetics Flash Facts

High lactose and no glucose

3858

Genetics Flash Facts

Q1930:When glucose is present does cAMP go up or down?

3859

Genetics Flash Facts

they are inversely proportional;Glucose high cAMP low;glucose low cAMP high

3860

Genetics Flash Facts

Q1931:When glucose is high; what happens to the repressor?

3861

Genetics Flash Facts

it remains active since CAP can't block it (cAMP is low)

3862

Genetics Flash Facts

Q1932:What compounds are formed when lactose is broken down?

3863

Genetics Flash Facts

galactose and glucose

3864

Genetics Flash Facts

Q1933:What enzyme degrades lactose?

3865

Genetics Flash Facts

Beta-Galactosidase

3866

Genetics Flash Facts

Q1934:Where does RNA polymerase work on?

3867

Genetics Flash Facts

Promoter

3868

Genetics Flash Facts

Q1935:Lactose goes with

3869

Genetics Flash Facts

Repressor

3870

Genetics Flash Facts

Q1936:Repressor attaches to?

3871

Genetics Flash Facts

Operator

3872

Genetics Flash Facts

Q1937:Attenuation??? Which operon?

3873

Genetics Flash Facts

Histidine Operon

3874

Genetics Flash Facts

Q1938:What happens when histidine is absent?

3875

Genetics Flash Facts

enzymes are produced

3876

Genetics Flash Facts

Q1939:What other a.a. work similar to the Histidine Operon?

3877

Genetics Flash Facts

Tryptophan;Leucine;Phenylalanine

3878

Genetics Flash Facts

Q1940:What is attenuation?

3879

Genetics Flash Facts

premature termination of transcription

3880

Genetics Flash Facts

Q1941:What does attenuation in prokaryotes depdend on?

3881

Genetics Flash Facts

The fact that transcription and translation occur simultaneously in prokaryotes

3882

Genetics Flash Facts

Q1942:What happens if histidine is present?

3883

Genetics Flash Facts

Transcription is terminated before RNA pol reaches operon

3884

Genetics Flash Facts

Q1943:Can attenuation occur in Eukaryotes?

3885

Genetics Flash Facts

No! Transcription and translation are two separate; independent events

3886

Genetics Flash Facts

Q1944:What starts translation after leader peptide is made?

3887

Genetics Flash Facts

Shine-Dalgarno sequence

3888

Genetics Flash Facts

Q1945:What happens when histidine is low?

3889

Genetics Flash Facts

the ribosomes will stall and not form the stem and loop + poly U that stops the ribosomes and they will continue to transcribe the genes of the operon

3890

Genetics Flash Facts

Q1946:What are activator proteins called in Eukaryotes?

3891

Genetics Flash Facts

Response Elements

3892

Genetics Flash Facts

Q1947:Where are response elements located?

3893

Genetics Flash Facts

Some upstream in promoter region;Most in an enhancer region outside of promoter even more upstream

3894

Genetics Flash Facts

Q1948:Where are upstream promoter elements located?

3895

Genetics Flash Facts

Just upstream of -25 sequence TATA Box

3896

Genetics Flash Facts

Q1949:What does the upstream promoter elements include?

3897

Genetics Flash Facts

CCAAT Box (-75) NF-1;GC-rich SP-1 (in between -25 and 75)

3898

Genetics Flash Facts

Q1950:What are the characteristics of enhancers?

3899

Genetics Flash Facts

Contain activator proteins;- may be 1000 bp away from gene;- upstream; downstream; within an intron;-they are tissue specific

3900

Genetics Flash Facts

Q1951:What are repressor proteins in Eukaryotes called?

3901

Genetics Flash Facts

Silencers

3902

Genetics Flash Facts

Q1952:What are cis regulators?

3903

Genetics Flash Facts

DNA regulatory base sequences/binding sites for proteins

3904

Genetics Flash Facts

Q1953:What are trans regulators?

3905

Genetics Flash Facts

transcription factors

3906

Genetics Flash Facts

Q1954:What are the properties of a trans regulatory property?

3907

Genetics Flash Facts

they can diffuse through the cell to their point of action.

3908

Genetics Flash Facts

Q1955:What protein class are steroid receptors?

3909

Genetics Flash Facts

Zinc Finger

3910

Genetics Flash Facts

Q1956:What protein class are cAMP response element binding prtoeins? (CREBs)

3911

Genetics Flash Facts

Leucine Zipper

3912

Genetics Flash Facts

Q1957:Homeodomain proteins are what protein class and what are they involved in?

3913

Genetics Flash Facts

Helix-turn-helix;Regulate gene expression during development;- embryonal development

3914

Genetics Flash Facts

Q1958:What protein class are peroxisome proliferatoractivated receptors? (PPARs)

3915

Genetics Flash Facts

Zinc finger proteins

3916

Genetics Flash Facts

Q1959:What is the response element for 1) steroid receptors?;for 2) cAMP?;for 3) peroxisome (PPARs)

3917

Genetics Flash Facts

1) HRE;2) CRE;3) PPREs

3918

Genetics Flash Facts

Q1960:Which response element is induced with the new tx for insulin resistance?

3919

Genetics Flash Facts

PPARs;- thiazolidinediones

3920

Genetics Flash Facts

Q1961:What is a new drug that targets Peroxisime proliferator-activated receptors? (PPARs)

3921

Genetics Flash Facts

Clofibrate;-affects lipid metabolism

3922

Genetics Flash Facts

Q1962:What happens when glucose is low?

3923

Genetics Flash Facts

Glucagon released

3924

Genetics Flash Facts

Q1963:What is the effect of glucagon on gene regulation?

3925

Genetics Flash Facts

increases cAMP

3926

Genetics Flash Facts

Q1964:What happens in time of stress?

3927

Genetics Flash Facts

Cortisol secreted

3928

Genetics Flash Facts

Q1965:What does cAMP do?

3929

Genetics Flash Facts

- activates Protein Kinase A;- CREB is activated via phosphorylation

3930

Genetics Flash Facts

Q1966:CREB binds to what in the nucleus?

3931

Genetics Flash Facts

CREB enters the nucleus and binds CRE region in the enhancer region

3932

Genetics Flash Facts

Q1967:What does the GRE and CRE region do?

3933

Genetics Flash Facts

They enhance or activate PEPCK gene

3934

Genetics Flash Facts

Q1968:Who activates GRE enhancer region?

3935

Genetics Flash Facts

cortisol (glucocorticoid response element)

3936

Genetics Flash Facts

Q1969:Who activates CRE enhancer region?

3937

Genetics Flash Facts

Active CREB (cAMP response element) which is activated by cAMP

3938

Genetics Flash Facts

Q1970:What are two homeodomain protein regulator genes?

3939

Genetics Flash Facts

HOX and PAX genes;Homeobox and Paired-Box genes

3940

Genetics Flash Facts

Q1971:What disease is associated with PAX (paired-box) genes?

3941

Genetics Flash Facts

Klein Waardenburg syndrome (WS-III);dystopia canthorum; pigment abnormalities;congenital deafness;limb abnormalities

3942

Genetics Flash Facts

Q1972:What are some exceptions to codominat expression?

3943

Genetics Flash Facts

- Barr Body (inactive X chromosome) in women;- Ig heavy and light chain loci;- T-cell receptor loci

3944

Genetics Flash Facts

Q1973:What happens when genes become acetylated?

3945

Genetics Flash Facts

The histones are acetylated and it increases gene expression

3946

Genetics Flash Facts

Q1974:How do genes become silenced? Give two diseases that follows this;

3947

Genetics Flash Facts

Methylation of DNA silences genes;Prader-Willi and Angelman Sx

3948

Genetics Flash Facts

Q1975:What chromosome is involved in defect of imprinting?

3949

Genetics Flash Facts

Chromosome 15

3950

Genetics Flash Facts

Q1976:What is the problem in Prader-Willi Sx?

3951

Genetics Flash Facts

Prader-Willi region is inherited from Paternal Origin (P for P);so; if father has defective chromosome 15 then symptoms will occur

3952

Genetics Flash Facts

Q1977:What are the symptoms of Prader-Willi Sx?

3953

Genetics Flash Facts

- Childhood obesity + hyperphagia;- Hypogonadotrophic hypogonadism;- Mental Retardation;- Hypotonia

3954

Genetics Flash Facts

Q1978:How else can you get Prader-Willi Sx?

3955

Genetics Flash Facts

uniparental (maternal) disomy of chromosome 15

3956

Genetics Flash Facts

Q1979:When does upstream termination occur?

3957

Genetics Flash Facts

When histidine is present

3958

Genetics Flash Facts

Q1980:When does downstream termination occur?

3959

Genetics Flash Facts

when histidine is absent;* this is a normal termination

3960

Genetics Flash Facts

Q1981:What kindo of domain do HOX and PAX have?

3961

Genetics Flash Facts

helix-turn-helix domain

3962

Genetics Flash Facts

Q1982:What is the first step in increase activity of betagalactosidase activity?

3963

Genetics Flash Facts

increase in cAMP due to glucose depletion

3964

Genetics Flash Facts

Q1983:Why does beta-galactosidase activity decrease?

3965

Genetics Flash Facts

depletion of lactose;- dissociation of repressor protein;binding of repressor to operator control region

3966

Genetics Flash Facts

Q1984:Chp. 6

3967

Genetics Flash Facts

Recombinant DNA

3968

Genetics Flash Facts

Q1985:WHat does restriction sites provide?

3969

Genetics Flash Facts

Usually defense against DNA viruses

3970

Genetics Flash Facts

Q1986:How do palindromes get protected in bacterial DNA?

3971

Genetics Flash Facts

methylase enzyme modification

3972

Genetics Flash Facts

Q1987:How is infecting viral DNA recognized?

3973

Genetics Flash Facts

unmethylated palindromes are recognized by restriction endonuclease

3974

Genetics Flash Facts

Q1988:What is a vector?

3975

Genetics Flash Facts

piece of DNA that is capable of autonomous replication in a host cell

3976

Genetics Flash Facts

Q1989:What is recombinant DNA?

3977

Genetics Flash Facts

when a fragment is placed inside a vector

3978

Genetics Flash Facts

Q1990:What is a genomic DNA library?

3979

Genetics Flash Facts

colonies produced by plating the recombinant DNA with antibiotic resistance and sensitivity

3980

Genetics Flash Facts

Q1991:What can restriction site polymorphisms be used for?

3981

Genetics Flash Facts

These enzymes cut DNA sequences and detect defects in longer sequences or shorter sequences;Example: Sickle Cell Mutation which results in ONE long 1.35 kb fragment instead of a 1.15kb and a 0.2kb fragment (2 fragments is normal)

3982

Genetics Flash Facts

Q1992:What do cDNA lack?

3983

Genetics Flash Facts

introns

3984

Genetics Flash Facts

Q1993:What must cDNA contain?

3985

Genetics Flash Facts

complete coding sequence of a gene

3986

Genetics Flash Facts

Q1994:What is produced at the end of a cloning procedure?

3987

Genetics Flash Facts

An expression library

3988

Genetics Flash Facts

Q1995:What do you do after reverse transcriptase has created the first strand of cDNA?

3989

Genetics Flash Facts

Treat DNA with NaOH to remove mRNA template

3990

Genetics Flash Facts

Q1996:What enzyme do you use to create cDNA?

3991

Genetics Flash Facts

reverse transcriptase

3992

Genetics Flash Facts

Q1997:How do you remove mRNA template strand in making cDNA?

3993

Genetics Flash Facts

NaOH (sodium hydroxide)

3994

Genetics Flash Facts

Q1998:What must be inserted in order to produce proteins as the end product of cloning?

3995

Genetics Flash Facts

- Bacterial Promoter;- Shine-Dalgarno Sequence

3996

Genetics Flash Facts

Q1999:What are 3 examples in which cDNA expression libraries are being used?

3997

Genetics Flash Facts

1) Recombinant Human Insulin;2) Recombinant Factor VIII (treating Hemophilia A);3) Recombinant HBsAg (antigen(protein) is made and given to patients to immunize them against hepatitis B without introducing the live virus)

3998

Genetics Flash Facts

Q2000:Does the gene therapy cure the patient and subsequent generations?

3999

Genetics Flash Facts

NO! it cures only the patient since it is only introduced into the affected organ and not into the reproductive tissues of the afected individual

4000

Genetics Flash Facts

Q2001:What is a transgenic animal?

4001

Genetics Flash Facts

animal in which a new gene has been introduced into its germline

4002

Genetics Flash Facts

Q2002:How is gene therapy different from Transgenic Animals?

4003

Genetics Flash Facts

transgenic animals have virtually new gene in every cell; including the gametophytes so that they get passed on to their offspring and these are no longer affected by the defect

4004

Genetics Flash Facts

Q2003:What are genomic libraries used for?

4005

Genetics Flash Facts

studying DNA sequences that are not expressed;- response elements;- introns;- promoters;Constucting restriction maps of DNA (sickle cell);Id genetic markers (microsatellites)

4006

Genetics Flash Facts

Q2004:Chp. 7

4007

Genetics Flash Facts

Genetic Testing

4008

Genetics Flash Facts

Q2005:What are the Autosomal Dominant Dz characteristics?

4009

Genetics Flash Facts

- Only one mutant allele needed;- both sexes affected;- male to male transmission

4010

Genetics Flash Facts

Q2006:What are the Autosomal Dominant Dz?

4011

Genetics Flash Facts

1) Familian Hypercholesterolemia (LDL receptor def.);2) Huntington Dz;3) Neurofibromatosis I;4) Marfan Sx;5) Acute Intermitent Porphyria

4012

Genetics Flash Facts

Q2007:What are the characteristics of autonsomal recessive?

4013

Genetics Flash Facts

- two mutant alleles are requiered;- born to unaffected parents;- either sex;- male to male transmission

4014

Genetics Flash Facts

Q2008:What are some of the autosomal recessive dz?

4015

Genetics Flash Facts

* Sickle Cell Anemia;* Cystic Fibrosis;* Phenylketonuria;* Tay-Sachs Dz (Hexosaminidase A def.)

4016

Genetics Flash Facts

Q2009:What are the traits of X-linked dominant?

4017

Genetics Flash Facts

- One mutant allele ;- either sex;- affected male passes on to all daughters;- affected female passes trait to both fem and males

4018

Genetics Flash Facts

Q2010:What are 2 X-linked Dominant Dz?

4019

Genetics Flash Facts

- Hypophosphatemic Rickets;- Fragile X syndrome

4020

Genetics Flash Facts

Q2011:What are the traits of X-linked recessive dz?

4021

Genetics Flash Facts

- usually males are affected;- no male to male transmission

4022

Genetics Flash Facts

Q2012:What are some of the X-linked recessive dz?

4023

Genetics Flash Facts

1) Duchene Muscular Dystrophy;2) Lesch Nyhan Sx (Hypoxanthine-guanine phosphoribosyltransferase HGPRT)self mutilation;3) Glucose-6-Phosphate Dehydrogenase def;4) Hemophilia A and B

4024

Genetics Flash Facts

Q2013:What is the trait of Mitochrondrial Inheritance?

4025

Genetics Flash Facts

- inherited maternally;- ALL offspring of affected female are affected!

4026

Genetics Flash Facts

Q2014:What are the 3 diseases that arise from Mitochrondrial Inheritance?

4027

Genetics Flash Facts

LHON; MELAS and MERRF;1) Leber Hereditary Optic Neurophathy;2) Mitochondrial Encephalomyopathy; lactic acidosis; stroke-like episodes;3) Myoclonic epilepsy with ragged red muscle fibers

4028

Genetics Flash Facts

Q2015:What form of inheritance is Cystif Fibrosis?

4029

Genetics Flash Facts

autosomal recessive

4030

Genetics Flash Facts

Q2016:How do you inherit Hungtington Dz?

4031

Genetics Flash Facts

Autosomal Dominat

4032

Genetics Flash Facts

Q2017:What form of inheritance is sickle cell disease?

4033

Genetics Flash Facts

autosomal recessive

4034

Genetics Flash Facts

Q2018:What form of inheritance is Fragile X Sx?

4035

Genetics Flash Facts

X-linked Dominant

4036

Genetics Flash Facts

Q2019:How is Phenylketonuria inherited?

4037

Genetics Flash Facts

autosomal recessive

4038

Genetics Flash Facts

Q2020:How is Lesch-Nyhan Sx inherited?

4039

Genetics Flash Facts

X-linked recessive

4040

Genetics Flash Facts

Q2021:How is Neurofibromatosis I inherited?

4041

Genetics Flash Facts

Autosomal Dominant

4042

Genetics Flash Facts

Q2022:What is the mode of inheritance of Marfan Sx?

4043

Genetics Flash Facts

Autosomal Dominant

4044

Genetics Flash Facts

Q2023:How is Leber Hereditary Optic Neuropathy inherited?

4045

Genetics Flash Facts

Mitochrondrial Inheritance

4046

Genetics Flash Facts

Q2024:How is Duchenne Muscular Dystrophy inherited?

4047

Genetics Flash Facts

x-linked recessive

4048

Genetics Flash Facts

Q2025:How is myoclonic epilepsy inherited?

4049

Genetics Flash Facts

mitochrondrial inheritance

4050

Genetics Flash Facts

Q2026:How is Acute intermittent porphyria inherited?

4051

Genetics Flash Facts

Autosomal DOMINANT

4052

Genetics Flash Facts

Q2027:How is Rickets inherited?

4053

Genetics Flash Facts

X-linked Autosomal Dominant

4054

Genetics Flash Facts

Q2028:How is Cystic Fibrosis inherited?

4055

Genetics Flash Facts

autosomal recessive

4056

Genetics Flash Facts

Q2029:How is Phenylketonuria inherited?

4057

Genetics Flash Facts

autosomal recessive

4058

Genetics Flash Facts

Q2030:How is Familia Hypercholesterolemia inherited?

4059

Genetics Flash Facts

Autosomal Dominant;LDL receptor deficiency

4060

Genetics Flash Facts

Q2031:How is Tay-Sachs Disease inhertied?

4061

Genetics Flash Facts

autosomal recessive

4062

Genetics Flash Facts

Q2032:How is Lesch-Nyhan Sx inherited?

4063

Genetics Flash Facts

HGPRT def;X-linked recessive

4064

Genetics Flash Facts

Q2033:How is Hemophilia A and B inherited?

4065

Genetics Flash Facts

X-linked recessive

4066

Genetics Flash Facts

Q2034:How is Glucose-6-phosphatase inherited?

4067

Genetics Flash Facts

X-linked recessive

4068

Genetics Flash Facts

Q2035:How is cystic fibrosis inherited?

4069

Genetics Flash Facts

CFTR autosomal recessive

4070

Genetics Flash Facts

Q2036:Which RNA is identical to the coding strand?

4071

Genetics Flash Facts

the mRNA

4072

Genetics Flash Facts

Q2037:What is the template strand?

4073

Genetics Flash Facts

The strand that is compelementary and antiparallel to the mRNA

4074

Genetics Flash Facts

Q2038:What amino acids (a.a.) are precursors of catecholamines?

4075

Genetics Flash Facts

Phenylalanine and Tyrosine

4076

Genetics Flash Facts

Q2039:What does tryptophan form?

4077

Genetics Flash Facts

Serotonin and Niacin

4078

Genetics Flash Facts

Q2040:What a.a. is involved in depression?

4079

Genetics Flash Facts

Tryptophan--> makes Serotonin

4080

Genetics Flash Facts

Q2041:What a.a. are involved in maple syrup disease?

4081

Genetics Flash Facts

Isoleucine; Leucine and Valine;I Love Vermont maple syrup!!!

4082

Genetics Flash Facts

Q2042:What a.a. is a secondary amine?

4083

Genetics Flash Facts

Proline

4084

Genetics Flash Facts

Q2043:What does Proline do to the protein structure?

4085

Genetics Flash Facts

disrupts secondary structure

4086

Genetics Flash Facts

Q2044:What are the acidic a.a.?

4087

Genetics Flash Facts

aspartic acid and glutamic acid ;negatively charged coo-

4088

Genetics Flash Facts

Q2045:What a.a. are basic? 3

4089

Genetics Flash Facts

Histidine; Arginine; Lysine;BASE HAL;They are positively charged NH+

4090

Genetics Flash Facts

Q2046:What a.a. is associated with the Golgi apparatus? 2

4091

Genetics Flash Facts

serine and threonine;O-linked glycosylation;Mannose-6phosphate;lysosomes

4092

Genetics Flash Facts

Q2047:What a.a. is associated w/ endoplasmic reticulum and export of proteins?

4093

Genetics Flash Facts

Asparagine;N-linked glycosylation

4094

Genetics Flash Facts

Q2048:What are two a.a. that conatin sulfure?

4095

Genetics Flash Facts

Cysteine and Methionine

4096

Genetics Flash Facts

Q2049:What does cysteine do to the protein structure?

4097

Genetics Flash Facts

stabilize the shape of proteins (3ry structure)

4098

Genetics Flash Facts

Q2050:What two a.a. are linked with post-translational modificacion?

4099

Genetics Flash Facts

serine; threonine and asparagine

4100

Genetics Flash Facts

Q2051:What a.a. is a methyl donor?

4101

Genetics Flash Facts

methionine ;S-adenosaylmethionine (SAM)

4102

Genetics Flash Facts

Q2052:What does tyrosine make?

4103

Genetics Flash Facts

Catecolamines;Thyroid T3/T4;Melanin

4104

Genetics Flash Facts

Q2053:What is the smallest a.a.?

4105

Genetics Flash Facts

glycine

4106

Genetics Flash Facts

Q2054:What a.a. makes tyrosine?

4107

Genetics Flash Facts

Phenylalanine

4108

Genetics Flash Facts

Q2055:What is made with tyrosine?

4109

Genetics Flash Facts

cathecholamiens;thyroid T3T4;melanin

4110

Genetics Flash Facts

Q2056:What a.a. is associated with Vitamin B3?

4111

Genetics Flash Facts

tryptophan is asociated with B3 (niacin) ;NAD

4112

Genetics Flash Facts

Q2057:What disease is also related to tryptophan deficiency and pellagra?

4113

Genetics Flash Facts

Hartnup Dz;since decreases Niacin B3 and causes Pellagra (dermatitis; diarrhea; demetnia)

4114

Genetics Flash Facts

Q2058:What a.a. contributes to the negative charge of proteins?

4115

Genetics Flash Facts

aspartic acid coo-;glutamic acid

4116

Genetics Flash Facts

Q2059:What a.a. contributes to the positive charge of proteins?

4117

Genetics Flash Facts

lysine and arginine

4118

Genetics Flash Facts

Q2060:What a.a. is abundant in RBC?

4119

Genetics Flash Facts

histidine since it brings the pH to 7.0

4120

Genetics Flash Facts

Q2061:What is the only a.a. that is useful in maintaining the physiologic pH (7.2-7.4)?

4121

Genetics Flash Facts

Histidine pK at 7.0

4122

Genetics Flash Facts

Q2062:What are the essential amino acids?

4123

Genetics Flash Facts

PVT TIM HALL;Private tim hall

4124

Genetics Flash Facts

Q2063:What does PVT TIM HALL stand for?

4125

Genetics Flash Facts

Phenylalanine;Valine;Tryptophan;Threonine;Isoleucine;Methi onine;Histidine;Arginine;Leucine;Lysine

4126

Genetics Flash Facts

Q2064:What charge is the protein if the pH is lower than the pI?

4127

Genetics Flash Facts

positive ;- it is trying to compensate and neutralize it (buffering it)

4128

Genetics Flash Facts

Q2065:What charge is the protein if the pH is higher than the pI?

4129

Genetics Flash Facts

negative

4130

Genetics Flash Facts

Q2066:What are Cooperative Enzymes called?

4131

Genetics Flash Facts

Allosteric Enzymes

4132

Genetics Flash Facts

Q2067:WHat happens when Km increases?

4133

Genetics Flash Facts

the affinity is low

4134

Genetics Flash Facts

Q2068:What do enzymes do with chemical Rx?

4135

Genetics Flash Facts

decrease energy of activation

4136

Genetics Flash Facts

Q2069:What happens when there is a competitive inhibitor?

4137

Genetics Flash Facts

Km increases; Vmax stays the same;Thin Kompetitive Increases

4138

Genetics Flash Facts

Q2070:What happens when noncompetitive inhibitor binds?

4139

Genetics Flash Facts

Km no effect; Vmax decreases

4140

Genetics Flash Facts

Q2071:What happens when an irreversible inhibitor binds?

4141

Genetics Flash Facts

Km no effect; Vmax decreases

4142

Genetics Flash Facts

Q2072:What are two examples of competitive inhibitors?

4143

Genetics Flash Facts

HMG-coA reductase;Methotrexate (inhibits folic acid dihidrofolate reductase)

4144

Genetics Flash Facts

Q2073:What hormones affecte near-by organs?

4145

Genetics Flash Facts

paracrine

4146

Genetics Flash Facts

Q2074:What hormones go around the body through long distances?

4147

Genetics Flash Facts

telecrine

4148

Genetics Flash Facts

Q2075:What are two examples of paracrine hormones?

4149

Genetics Flash Facts

prostaglandins and neurotransmitters

4150

Genetics Flash Facts

Q2076:What are two classes of telecrine hormones?

4151

Genetics Flash Facts

endocrine and GI hormones

4152

Genetics Flash Facts

Q2077:What are the two classes of hormones?

4153

Genetics Flash Facts

Hydrophocis and Hydrophilic

4154

Genetics Flash Facts

Q2078:Where is the receptor for water soluble hormone? Lipid soluble?

4155

Genetics Flash Facts

Water- receptor on cell membrane;Lipid - inside the cell Zinc Finger

4156

Genetics Flash Facts

Q2079:What happens to the hormone inside the cell?

4157

Genetics Flash Facts

Water - second messengers;Lipid - hormone receptor complex binds to response elements (HRE in enhancer region)

4158

Genetics Flash Facts

Q2080:How are water soluble hormones controlling gene expresion?

4159

Genetics Flash Facts

Through proteins like cAMP respones element binding (CREB)

4160

Genetics Flash Facts

Q2081:Which process (water or lipid soluble) is faster?

4161

Genetics Flash Facts

water soluble

4162

Genetics Flash Facts

Q2082:What hormone group uses Leucine Zippers?

4163

Genetics Flash Facts

Water Soluble

4164

Genetics Flash Facts

Q2083:Give three examples of water soluble?

4165

Genetics Flash Facts

Insulin;Glucagon;Catecholamines

4166

Genetics Flash Facts

Q2084:What are 4 examples of lipid soluble hormones?

4167

Genetics Flash Facts

Steroids;Calcitriol;Thyroxines;Retinoic Acid

4168

Genetics Flash Facts

Q2085:What are the three second messengers for water soluble hormones?

4169

Genetics Flash Facts

cAMP;PIP2 (DAG; IP3; Ca2+);cGMP

4170

Genetics Flash Facts

Q2086:What does cAMP control? protein/enzyme/kinase?

4171

Genetics Flash Facts

Gs protein; adenyl cyclase enzyme; protein kinase A

4172

Genetics Flash Facts

Q2087:What does PIP2 control? protein/enzyme/kinase?

4173

Genetics Flash Facts

Gq; phospholipase C; protein kinase C

4174

Genetics Flash Facts

Q2088:What does cGMP control? protein/enzyme/kinase?

4175

Genetics Flash Facts

none; guanyl cyclase; protien kniase G

4176

Genetics Flash Facts

Q2089:What are two examples of cAMP control?

4177

Genetics Flash Facts

glucagon;epinephrine (alpha2 and beta)

4178

Genetics Flash Facts

Q2090:What are two examples of PIP2?

4179

Genetics Flash Facts

vasopressin;epinephrine (alpah 1)

4180

Genetics Flash Facts

Q2091:What are two examples of cGMP?

4181

Genetics Flash Facts

Atrial Natriuretic Factor (ANF);Nitric Oxide (NO)

4182

Genetics Flash Facts

Q2092:What does insulin; growth factor control? protein/enzyme/kinase?

4183

Genetics Flash Facts

monomeric p21ras; none; tyrosine kinase

4184

Genetics Flash Facts

Q2093:What are some examples of insulin and growth factors control?

4185

Genetics Flash Facts

insulin;insulin-like growth factor (IGF);platelet-derived growth factor (PDGF);Epidermal Growth Factor (EGF)

4186

Genetics Flash Facts

Q2094:What water soluble hormone system has a 7 helixspan?

4187

Genetics Flash Facts

cAMP and PIP2 system

4188

Genetics Flash Facts

Q2095:Whioh system works inside the nucleus?

4189

Genetics Flash Facts

cAMP through CREB protein

4190

Genetics Flash Facts

Q2096:Which system works with the E.R.?

4191

Genetics Flash Facts

PIP2; releases Ca2+ from E.R.

4192

Genetics Flash Facts

Q2097:What system doesn't requiere G proteins?

4193

Genetics Flash Facts

cGMP for example Atrial Natriuretic Factor (ANF)

4194

Genetics Flash Facts

Q2098:What two protoncogenes are associated with G proteins?

4195

Genetics Flash Facts

1) p21ras oncogene ;colon; lung; breast and bladder CA;2) gsp oncogene;pituatary tumor; adenomas; endocrine ovarian turmos

4196

Genetics Flash Facts

Q2099:What protein is stimulated in Cholera toxin?

4197

Genetics Flash Facts

Gs alpha stimulates increase in cAMP

4198

Genetics Flash Facts

Q2100:What is similar in ADP-ribosylation of Gs alpha?

4199

Genetics Flash Facts

Cholera toxin and E. coli toxin

4200

Genetics Flash Facts

Q2101:What bacteria inhibits Gi alpha?

4201

Genetics Flash Facts

Pertussis;Increase activity of adenyl cyclase

4202

Genetics Flash Facts

Q2102:What does p21 ras do?

4203

Genetics Flash Facts

stimulates monomeric G protein

4204

Genetics Flash Facts

Q2103:What is SH2 linked with?

4205

Genetics Flash Facts

Tyrosine Kinase

4206

Genetics Flash Facts

Q2104:What is sildenafil associated with?

4207

Genetics Flash Facts

inhibits cGMP phosphodiesterase (PDE) in vascular smooth muscle

4208

Genetics Flash Facts

Q2105:What is the correct sequence in cGMP and sildenafil?

4209

Genetics Flash Facts

increase cGMP--> increase protein kinase--> vasodilation

4210

Genetics Flash Facts

Q2106:What is associated with growth factor?

4211

Genetics Flash Facts

tyrosine kinase

4212

Genetics Flash Facts

Q2107:Vitamins

4213

Genetics Flash Facts

Chp. 10

4214

Genetics Flash Facts

Q2108:What enzymes is biotin involved in?

4215

Genetics Flash Facts

All cabroxylases;pyruvate; acetyl coA; propionyl coA carboxylase

4216

Genetics Flash Facts

Q2109:Which enzymes is vitamin B1 involved in?

4217

Genetics Flash Facts

Thiamine is B1 involved in ;pyruvate dehydrogenase;alphaketoglutarate dehydrogenase;transketolase

4218

Genetics Flash Facts

Q2110:What pathways are involved with Thiamine?

4219

Genetics Flash Facts

B1 is involved in;PDH (pyruvate DHG);TCA cycle (alphakg);HMP Shunt (transketolase)

4220

Genetics Flash Facts

Q2111:What are the symptoms of B1 deficiency?

4221

Genetics Flash Facts

Wernicke- ataxia; nystagmus; ophtalmoplegia;Korsakoffconfabulation; psychosis;Wet Beri-beri cardiac failure lots of ATP needed

4222

Genetics Flash Facts

Q2112:What is vitamin B3?

4223

Genetics Flash Facts

Niacin

4224

Genetics Flash Facts

Q2113:What is vitamin B3 involved with?

4225

Genetics Flash Facts

dehydrogenases

4226

Genetics Flash Facts

Q2114:What co-factors are made by B3?

4227

Genetics Flash Facts

NAD and NADP

4228

Genetics Flash Facts

Q2115:What disease comes about with B3 deficiency?

4229

Genetics Flash Facts

diarrhea; dementia; dermititis ;pellagra

4230

Genetics Flash Facts

Q2116:What is a.a. deficient in B3 deficiency?

4231

Genetics Flash Facts

tryptophan (in corn)

4232

Genetics Flash Facts

Q2117:What is folic acid involved in? (enzyme)

4233

Genetics Flash Facts

thymidylates synthase;purine synthesis enzymes

4234

Genetics Flash Facts

Q2118:What is the MCC of B1 deficiency?

4235

Genetics Flash Facts

Alcoholism

4236

Genetics Flash Facts

Q2119:What is the MCC of thiamine def.?

4237

Genetics Flash Facts

alcoholism and pregnancy

4238

Genetics Flash Facts

Q2120:How long is thiamine stored?

4239

Genetics Flash Facts

3 months

4240

Genetics Flash Facts

Q2121:What are the risks of folic acid deficiency?

4241

Genetics Flash Facts

homocystinemia;deep vein thrombosis and atherosclerosis

4242

Genetics Flash Facts

Q2122:What happens to fetus if there is folic acid def.?

4243

Genetics Flash Facts

neural tube defects

4244

Genetics Flash Facts

Q2123:What is vitamin B12 involved in? enzymes?

4245

Genetics Flash Facts

Homocysteine methyltransferase;Methymalonyl CoA mutase

4246

Genetics Flash Facts

Q2124:What pathways is B12 involved in?

4247

Genetics Flash Facts

methionine; SAM;odd-carbon FA;val; met; ile; thr

4248

Genetics Flash Facts

Q2125:What two vitamins cause megaloblastic anemia?

4249

Genetics Flash Facts

B12 and folic acid

4250

Genetics Flash Facts

Q2126:What is the MCC of B12 def?

4251

Genetics Flash Facts

pernicious anemia

4252

Genetics Flash Facts

Q2127:What are other causes of B12 def.?

4253

Genetics Flash Facts

aging; poor nutrition; bacterial overgrowth of terminal ileum;resection of terminal ileum secondary to Crohn's DZ;chronic pancreatitis;vegans;infection with D. Latum

4254

Genetics Flash Facts

Q2128:What is the difference between B12 and folic acid def.?

4255

Genetics Flash Facts

B12 has progressive peripheral neuropathy

4256

Genetics Flash Facts

Q2129:What enzymes are involved with B6 vitamin?

4257

Genetics Flash Facts

B6 is pyridoxine;Aminotransferases;AST (GOT);ALT (GPT);Lamba-Aminolevulinate synthase

4258

Genetics Flash Facts

Q2130:What pathways is B6 involved in?

4259

Genetics Flash Facts

protein catabolism;heme synthesis

4260

Genetics Flash Facts

Q2131:What is the MCC of vit. B6 def.?

4261

Genetics Flash Facts

isoniazis therapy

4262

Genetics Flash Facts

Q2132:What do you find in B6 def.?

4263

Genetics Flash Facts

sideroblastic anemia;cheilosis and stomatitis;convulsions

4264

Genetics Flash Facts

Q2133:What is B2 vitamin?

4265

Genetics Flash Facts

RI BO flavin

4266

Genetics Flash Facts

Q2134:What cofactors are derived from B2?

4267

Genetics Flash Facts

FAD(H2)

4268

Genetics Flash Facts

Q2135:What enzymes are involved with B2?

4269

Genetics Flash Facts

dehydrogenases

4270

Genetics Flash Facts

Q2136:What findings w/ B2 def?

4271

Genetics Flash Facts

Corneal neovascularization;Cheilosis;Stomatitis;MagentaColored Tongue

4272

Genetics Flash Facts

Q2137:What enzymes are involved with vitamin C?

4273

Genetics Flash Facts

prolyl hydroxylases;Lysyl hydroxylases;DOPAMINE hydroxylase

4274

Genetics Flash Facts

Q2138:What pathways are involved with vitamin C?

4275

Genetics Flash Facts

collagen syntehsis;catecholamine synthesis;(absoprtion of Iron from GI tract)

4276

Genetics Flash Facts

Q2139:What is the MCC of vit. C def?

4277

Genetics Flash Facts

diet deficient in fruit and green vegetables

4278

Genetics Flash Facts

Q2140:What vitamin is involved in carboxylation of glutamic acid?

4279

Genetics Flash Facts

vitamin K

4280

Genetics Flash Facts

Q2141:What factors are involved in vitamin K?

4281

Genetics Flash Facts

2; 7; 9; 10 Protein C and S

4282

Genetics Flash Facts

Q2142:What is vitamin A involved in? Dz?

4283

Genetics Flash Facts

night blidness;follicular hyperkeratosis;xerophtalmia

4284

Genetics Flash Facts

Q2143:What is another name for vitamin A?

4285

Genetics Flash Facts

carotene;involved in retinoic acid and retinol ;ol oic;behave as steroid hormones

4286

Genetics Flash Facts

Q2144:What part of vitamin A is involved in rod and cone cell division?

4287

Genetics Flash Facts

Retinal;al

4288

Genetics Flash Facts

Q2145:What vitamin prevents oxidation of LDL particles?

4289

Genetics Flash Facts

vitamin E

4290

Genetics Flash Facts

Q2146:What is another name for vitamin E?

4291

Genetics Flash Facts

tocopherol

4292

Genetics Flash Facts

Q2147:What vitamin acts as steroid hormone uptake of dietary Ca+ from gut?

4293

Genetics Flash Facts

Vitamin D

4294

Genetics Flash Facts

Q2148:What two disease cause by vitamin D def?

4295

Genetics Flash Facts

children: Rickets;Adults: Osteomalacia

4296

Genetics Flash Facts

Q2149:What is the physiologic response to hypocalcemia?

4297

Genetics Flash Facts

- increase PTH;- PTH binds to proximal tubules;- cAMP activate 1-alpha-hydroxylase;- 1;25 DHCC acts on duodenal epithelial cells;- Zinc finger proteins binds to response elements (in enhancer region of DNA);- induce synthesis of calcium binding proteins

4298

Genetics Flash Facts

Q2150:What vitamin is toxic in pregnancy?

4299

Genetics Flash Facts

Vitamin A (Acutane) used to treat ACNE

4300

Genetics Flash Facts

Q2151:What vitamin D does the skin produce?

4301

Genetics Flash Facts

cholecalciferol (vitamin D3)

4302

Genetics Flash Facts

Q2152:What happens to vitamin D in the liver?

4303

Genetics Flash Facts

25-hydroxylation in the liver

4304

Genetics Flash Facts

Q2153:What is needed in patients with renal dz; fanconi sx; and genetic deficiency of 1-alpha-hydroxylase?

4305

Genetics Flash Facts

they all need to be supplemented with 1;25 DHCC;dihydrocolecalciferol;since renal 1-alpha-hydroxylase is not working

4306

Genetics Flash Facts

Q2154:Patients with liver damage should be given what?

4307

Genetics Flash Facts

25-DHCC or 1;25 DHCC

4308

Genetics Flash Facts

Q2155:Liver provides what to vitamin D?

4309

Genetics Flash Facts

two things;1st cholesterol to skin to make 7dehyrocholesterol;2nd 25-hydroxylation

4310

Genetics Flash Facts

Q2156:What is the comercial name for a retinoic acid that is teratogenic?

4311

Genetics Flash Facts

isotretinoin

4312

Genetics Flash Facts

Q2157:When does vitamin K act?

4313

Genetics Flash Facts

it is a co-translational modification;it acts during translation

4314

Genetics Flash Facts

Q2158:What causes vit. K deficiency? (drug)

4315

Genetics Flash Facts

1) phenylhydantoins during pregnancy ;vit. k deficient baby;2) breast-fed newborns;3) fat malabsoprtion (bile duct occlusin);4) prolong tx w/ antibiotics

4316

Genetics Flash Facts

Q2159:What is seen in the lab for vit K def?

4317

Genetics Flash Facts

increase PT;factor II

4318

Genetics Flash Facts

Q2160:What drug is a direct inhibitor of vit. K?

4319

Genetics Flash Facts

warfarin and coumadin

4320

Genetics Flash Facts

Q2161:Inheritance of CF?

4321

Genetics Flash Facts

Autosomal recessive

4322

Genetics Flash Facts

Q2162:Inheritance of albinism?

4323

Genetics Flash Facts

Autosomal recessive

4324

Genetics Flash Facts

Q2163:Inheritance of alpha-1 antitrypsin deficiency?

4325

Genetics Flash Facts

Autosomal recessive

4326

Genetics Flash Facts

Q2164:Inheritance of phenylketonuria?

4327

Genetics Flash Facts

Autosomal recessive

4328

Genetics Flash Facts

Q2165:Inheritance of thalassemias?

4329

Genetics Flash Facts

Autosomal recessive

4330

Genetics Flash Facts

Q2166:Inheritance of sickle cell anemia?

4331

Genetics Flash Facts

Autosomal recessive

4332

Genetics Flash Facts

Q2167:Inheritance of glycogen storage diseases?

4333

Genetics Flash Facts

Autosomal recessive

4334

Genetics Flash Facts

Q2168:Inheritance of mucopolysaccharidoses (EXCEPT HUNTER'S)?

4335

Genetics Flash Facts

Autosomal recessive

4336

Genetics Flash Facts

Q2169:Inheritance of sphingolipidoses (EXCEPT FABRY'S)?

4337

Genetics Flash Facts

Autosomal recessive

4338

Genetics Flash Facts

Q2170:Inheritance of infant polycystic kidney disease?

4339

Genetics Flash Facts

Autosomal recessive

4340

Genetics Flash Facts

Q2171:Inheritance of hemochromatosis?

4341

Genetics Flash Facts

Autosomal recessive

4342

Genetics Flash Facts

Q2172:Inheritance of Fragile X syndrome?

4343

Genetics Flash Facts

X-linked recessive

4344

Genetics Flash Facts

Q2173:Inheritance of Duchenne's muscular dystrophy?

4345

Genetics Flash Facts

X-linked recessive

4346

Genetics Flash Facts

Q2174:Inheritance of Hemophilia A and B?

4347

Genetics Flash Facts

X-linked recessive

4348

Genetics Flash Facts

Q2175:Inheritance of Fabry's (a sphingolipidosis disease)?

4349

Genetics Flash Facts

X-linked recessive

4350

Genetics Flash Facts

Q2176:Inheritance of G6PD deficiency

4351

Genetics Flash Facts

X-linked recessive

4352

Genetics Flash Facts

Q2177:Inheritance of Hunter's syndrome (a mucopolysaccharidosis disease)?

4353

Genetics Flash Facts

X-linked recessive

4354

Genetics Flash Facts

Q2178:Inheritance of OCULAR albinism?

4355

Genetics Flash Facts

X-linked recessive

4356

Genetics Flash Facts

Q2179:Inheritance of Lesch-Nyhan syndrome?

4357

Genetics Flash Facts

X-linked recessive

4358

Genetics Flash Facts

Q2180:Inheritance of Bruton's agammaglobulinemia?

4359

Genetics Flash Facts

X-linked recessive

4360

Genetics Flash Facts

Q2181:Inheritance of Wiskott-Aldrich syndrome?

4361

Genetics Flash Facts

X-linked recessive

4362

Genetics Flash Facts

Q2182:how many chromosomes and autosomes does each cell have?;what is the genetic term?

4363

Genetics Flash Facts

46 chromosomes;22 pairs of autosomes;1 pair of sex chromosomes;"Diploid"

4364

Genetics Flash Facts

Q2183:Definition;a chromosome number that is not a multiple of 23 (the normal haploid number)

4365

Genetics Flash Facts

Aneuploidy

4366

Genetics Flash Facts

Q2184:(2) ways that a haploid can become aneuploidy

4367

Genetics Flash Facts

Nondisjunction;(ex - Down's);Anaphase Lag;(monosomy)

4368

Genetics Flash Facts

Q2185:what most commonly occurs w/ a polyploidy fetus?;give an example of what polyploidy means

4369

Genetics Flash Facts

spontaneous abortion;Polyploidy = multiples of 23 chromosomes;ex) 69 chromosomes in patient

4370

Genetics Flash Facts

Q2186:Definition;two acrocentric chromosome are joined by common centromere causing the joining of the long arms (and possible loss of the short arms)

4371

Genetics Flash Facts

Robersonian Translocation

4372

Genetics Flash Facts

Q2187:Definition;the normal inactivation of one X chromosome

4373

Genetics Flash Facts

Lyonization;(creation of Barr Body)

4374

Genetics Flash Facts

Q2188:How many Barr Bodies;1. XX;2. XY;3. XXXY

4375

Genetics Flash Facts

XX = 1 barr body;XY = NO barr bodies;XXXY = 2 barr bodies

4376

Genetics Flash Facts

Q2189:Definition;when the cells in the body have a different genetic make-up (such as random X inactivation in females)

4377

Genetics Flash Facts

Mosaicism

4378

Genetics Flash Facts

Q2190:Dx;large forehead; broad nasal bridge; epicanthal folds; Brushfield spots; simian crease;genetic problem?

4379

Genetics Flash Facts

Down's syndrome;;(Trisomy 21)

4380

Genetics Flash Facts

Q2191:MCC of Down's syndrome;what is the other cause?;what is the "Familial form"?

4381

Genetics Flash Facts

Nondisjunction;;(Robertsonian) Translocation;(familial form)

4382

Genetics Flash Facts

Q2192:MC heart defect w/ Down's syndrome;what is it due to?

4383

Genetics Flash Facts

Septum primum-type ASD;due to: Endocardial Cushion defect

4384

Genetics Flash Facts

Q2193:(3) MC complications of Down's syndrome

4385

Genetics Flash Facts

AAA;ASD;ALL;Alzheimers

4386

Genetics Flash Facts

Q2194:what is the maternal screening for Down's;1. Alphafetoprotein;2. hCG;3. Unconjugated estriol

4387

Genetics Flash Facts

AFP = Low;hCG = High;E2 = Low

4388

Genetics Flash Facts

Q2195:Dx;severe mental retardation; microcephaly; wide-set eyes; low birth weight; round face; unusual cry;genetic problem?

4389

Genetics Flash Facts

Cri du chat;(deletion: 5p-)

4390

Genetics Flash Facts

Q2196:Dx;cardiac abnormalities; hypocalcemia; thymic aplasia; abnormal facies; cleft palate;genetic problem?

4391

Genetics Flash Facts

DiGeorge syndrome;(also called Velocardialfacial synd);(22q11 microdeletion);*signs = CATCH-22

4392

Genetics Flash Facts

Q2197:Dx;mental retardation; prominent occiput; Micrognathia; Rocker-bottom feet; index finger overlaps 3rd and 4th fingers; Congenital heart dz;genetic problem?

4393

Genetics Flash Facts

Edwards syndrome;(Trisomy 18 - nondisjunction);*18 = Election = Edwards

4394

Genetics Flash Facts

Q2198:Dx;mental retardation; microcephaly; Microphthalmia; cleft lip and palate; Polydactyly; rocker-bottom feet;genetic problem?

4395

Genetics Flash Facts

Patau syndrome;(Trisomy 13 - nondisjunction);13 = Puberty = Patau (= 13 fingers)

4396

Genetics Flash Facts

Q2199:Definition;disorder when there are at least two Xchromosomes and one or more Y-chromosomes

4397

Genetics Flash Facts

Klinefelter syndrome

4398

Genetics Flash Facts

Q2200:Dx;male w/ Atrophic testes; Tall stature; Gynecomastia; decreased testosterone; increased pituitary gonadotropins; male infertility;genetic problem?

4399

Genetics Flash Facts

Klinefelter syndrome;(maternal meiotic nondisjunction);[Kline felt her TAG him]

4400

Genetics Flash Facts

Q2201:Dx;Violent behavior; tall; severe Acne

4401

Genetics Flash Facts

XYY syndrome

4402

Genetics Flash Facts

Q2202:MCC of Primary Amenorrhea

4403

Genetics Flash Facts

Turner's syndrome

4404

Genetics Flash Facts

Q2203:Dx;Short stature; shield-like chest; Amenorrhea; Webbed neck; Ovary replaced by Fibrous Streaks;genetic problem?

4405

Genetics Flash Facts

Turner's syndrome;(XO w/o Barr bodies);[Turner WAS not feminine]

4406

Genetics Flash Facts

Q2204:MC cardiac problem w/ Turner's syndrome

4407

Genetics Flash Facts

Coarctation of the aorta

4408

Genetics Flash Facts

Q2205:(2) common cardiac defects w/ 22q11 syndromes (DiGeorge)

4409

Genetics Flash Facts

Truncus Arteriosus;Tetralogy of Fallot;[where all the T's went to;]

4410

Genetics Flash Facts

Q2206:Dx;mental retardation; long face w/ large jaw; large everted ears; Autism; Macro-orchidism;genetic problem?

4411

Genetics Flash Facts

Fragile X syndrome;(X-lined defect w/ CGG repeats);[big testicles = X-rated]

4412

Genetics Flash Facts

Q2207:what is the underlying (biochemical) cause of Fragile X syndrome?;what is unusual about this syndrome?

4413

Genetics Flash Facts

defect in Methylation of FMR1 gene;X-linked problem that may show signs of retardation in male and female offspring

4414

Genetics Flash Facts

Q2208:Definition;severity of Dz worsens or age of onset of dz is earlier in succeeding generations;(example)

4415

Genetics Flash Facts

Anticipation;(Huntingtons)

4416

Genetics Flash Facts

Q2209:Definition;hereditary disorders in which differing phenotypes occur depending on whether an abnormal gene is of maternal or paternal origin;(examples)

4417

Genetics Flash Facts

Genomic Imprinting;(Prader-Willi or Angelman)

4418

Genetics Flash Facts

Q2210:Dx;mental retardation; hypogonadism; hypotonia; behavior problems; uncontrolled appetitie leading to obesity and DM;genetic problem?

4419

Genetics Flash Facts

Prader-Willi syndrome;(5q11-13 deletion on father's chromosome)

4420

Genetics Flash Facts

Q2211:Dx;mental retardation; ataxia; seizures; inappropriate laughter;genetic problem?

4421

Genetics Flash Facts

Angelman syndrome;(5q11-13 deletion on mother's chromosome)

4422

Genetics Flash Facts

Q2212:Definition;Not all individuals w/ mutant genotype show mutant phenotype

4423

Genetics Flash Facts

Incomplete penetrance

4424

Genetics Flash Facts

Q2213:Definition;one gene has greater then one effect on the individual's phenotype

4425

Genetics Flash Facts

Pleiotropy

4426

Genetics Flash Facts

Q2214:Definition;a heterozygote produces a nonfunctional altered protein that also prevents the normal gene product from functioning

4427

Genetics Flash Facts

Dominant Negative mutation;(exerts a Dominant effect)

4428

Genetics Flash Facts

Q2215:Definition;mutations at different loci can produce the same phenotype;(example)

4429

Genetics Flash Facts

Locus Heterogenicity;(Albinism)

4430

Genetics Flash Facts

Q2216:Equation for Hardy-Weinberg population genetics;Disease Prevalence

4431

Genetics Flash Facts

p^2 + 2pq + q^2 = 1

4432

Genetics Flash Facts

Q2217:Equation for Hardy-Weinberg population genetics;Allele Prevalence

4433

Genetics Flash Facts

p+q=1

4434

Genetics Flash Facts

Q2218:Equation for Hardy-Weinberg population genetics;Heterozygote Prevalence;(p and q on separate alleles)

4435

Genetics Flash Facts

HP = 2pq

4436

Genetics Flash Facts

Q2219:type of inheritance;often due to Structural defects

4437

Genetics Flash Facts

Autosomal Dominant

4438

Genetics Flash Facts

Q2220:type of inheritance;often due to Enzyme deficiencies

4439

Genetics Flash Facts

Autosomal Recessive

4440

Genetics Flash Facts

Q2221:Main sign of;X-linked Recessive

4441

Genetics Flash Facts

no male-to-male transmission

4442

Genetics Flash Facts

Q2222:Main sign of;X-linked Dominant

4443

Genetics Flash Facts

All females are affected by father

4444

Genetics Flash Facts

Q2223:Lysosomal storage Dz;peripheral neuropathy of hands and feet; angiokeratomas; CV and renal Dz;Enzyme?;inheritance?

4445

Genetics Flash Facts

Fabry's Dz;(alpha-Galactosidase A);X-recessive

4446

Genetics Flash Facts

Q2224:Lysosomal storage Dz;hepatosplenomegaly; aseptic necrosis of femur; bone pain; unique macros;Enzyme?

4447

Genetics Flash Facts

Gaucher's Dz;(Glucocerebrosidase)

4448

Genetics Flash Facts

Q2225:Lysosomal storage Dz;progressive neurodegeneration; hepatosplenomegaly; cherry-spot on macula;Enzyme?

4449

Genetics Flash Facts

Niemann-Pick;(Sphingomyelinase)

4450

Genetics Flash Facts

Q2226:Lysosomal storage Dz;progressive neurodegeneration; developmental delay; cherry-spot macula; lysozymes w/ onion skin;Enzyme?

4451

Genetics Flash Facts

Tay-Sachs Dz;(Hexosaminidase A)

4452

Genetics Flash Facts

Q2227:Lysosomal storage Dz;peripheral neuropathy; developmental delay; optic atrophy;Enzyme?

4453

Genetics Flash Facts

Krabbe's Dz;(beta-Galactosidase);[Krabs have small eyes]

4454

Genetics Flash Facts

Q2228:Lysosomal storage Dz;developmental delay; gargoylism; airway obstruction; corneal clouding;Enzyme?

4455

Genetics Flash Facts

Hurler's syndrome;(Alpha-L-IDuronidase);[A Lit-ID in Quasimoto caused him to HURL the GARGOYLE]

4456

Genetics Flash Facts

Q2229:Lysosomal storage Dz;mild developmental delay; mild gargoylism; airway obstruction; aggressive behavior;Enzyme?;inheritance?

4457

Genetics Flash Facts

Hunter's syndrome;(Iduronate Sulfatase);[Hunter's Aggressive ID Shot the X];X-recessive

4458

Genetics Flash Facts

Q2230:Familial Dyslipidemia type;Inc Chylomicrons only;pathology?

4459

Genetics Flash Facts

Type I;(hyperchylomiconemia);Lipoprotein Lipase deficiency

4460

Genetics Flash Facts

Q2231:Familial Dyslipidemia type;Increased LDL only;(high blood cholesterol);pathology?

4461

Genetics Flash Facts

Type IIa;(hypercholesterolemia);Low LDL receptors

4462

Genetics Flash Facts

Q2232:Familial Dyslipidemia type;Increased LDL and VLDL;pathology?

4463

Genetics Flash Facts

Type IIb;(combined hyperlipidemia);Hepatic overproduction of LDL

4464

Genetics Flash Facts

Q2233:Familial Dyslipidemia type;Increased IDL; VLDL;pathology?

4465

Genetics Flash Facts

Type III;(dysbetalipoproteinemia);Altered Apo-E

4466

Genetics Flash Facts

Q2234:Familial Dyslipidemia type;Increased VLDL only;(high blood TG);pathology?

4467

Genetics Flash Facts

Type IV;(hypertriglyceridemia);Hepatic overproduction of VLDL

4468

Genetics Flash Facts

Q2235:Familial Dyslipidemia type;Increased VLDL; chylomicrons;pathology?

4469

Genetics Flash Facts

Type V;(mixed hypertriglyceridemia);Inc production or Dec clearance of VLDL and chylomicrons

4470

Genetics Flash Facts

Q2236:Autosomal Dominant Dz;cafe-au-lait spots; neural tumors; pigmented iris hamartomas; scoliosis

4471

Genetics Flash Facts

Neurofibromatosis Type 1;(Von Recklinghausen Dz);(chrom 17)

4472

Genetics Flash Facts

Q2237:Autosomal Dominant Dz;bilateral acoustic neuromas; optic pathway gliomas; juvenile cataracts

4473

Genetics Flash Facts

Neurofibromatosis Type 2;(chrom 22)

4474

Genetics Flash Facts

Q2238:Autosomal Dominant Dz;facial lesions; hypopigmented "ash leaf spot" on skin; cortical and retinal hamartomas; seizures; mental retardation

4475

Genetics Flash Facts

Tuberosus Sclerosis

4476