Genetics: Chapter 8 & 26

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Gregor Mendel- Austrian monk who used crosses of garden pea plants came up with the rules of inheritance still used today Genes units of instructions for producing or influencing a specific trait in the offspring. Each gene has its own locus or particular location on a chromosome Alleles various molecular forms of a gene. The two genes of a pair deal with the same trait but they vary in their information about it. Dominant masks the effect of any recessive allele for a trait written in capital letters Recessive the allele that is masked written in small letters Genotype an individual genes or genetic code Phenotype an individuals traits the physical appearance or expression Homozygous two of the same alleles for a trait Homozygous dominant = 2 dominant alleles BB Homozygous recessive = 2 recessive alleles (trait is seen) bb Heterozygous 2 different alleles for a trait Bb P = parental generation F1 = first generation offspring F2 = second generation offspring Monohybrid Cross crossing a single trait two parents breed true for contrasting forms of a single trait produces heterozygous offspring Punnett Square: cross 2 pure breeds Phenotypic Ration = 3:1 Genotypic Ration = 1:2:1 Dihybrid Cross Crossing 2 traits corn or flowers

9:3:3:1 = 16 Mendelian Principle of Segregation Diploid organisms inherit a pair of genes for each trait. The two genes segregate from each other during meiosis so each gamete formed will end up with one or the other gene but not both. Medelian Principle of Independent Assortment Each gene pair tends to assort into gametes independently of other gene pairs located on nonhomologous chromosomes. Incomplete Dominance Non completely dominant cross red and white and get pink offspring. Exception to rule Codominance A pair of non- identical alleles gives rise to two different phenotypes. Neither allele dominates the expression of the other in heterozygotes. ABO Blood Types Exception to rule Epistasis one gene pair masks the expression of another and some expected phenotypes dont appear. I.E. Color of fur or skin in mammals melanin Exception to rule Pleiotropy a single gene can exert effects on seemingly unrelated aspects of an individuals phenotype I.E. hemoglobin mutation Autosomes All the chromosomes other than the sex chromosomes Sex Chromosomes: xx = females xy = males

Karyotype a visual representation in which the chromosomes of a cell are arranged in order largest to smallest Family Pedigrees charts of genetic relationships of individuals in families. With pedigrees they can identify inheritance patterns and track genetic abnormalities through several generations.

Autosomal Recessive Inheritance Recessive allele on an autosome can affect females or males heterozygotes are symptom free homozygotes are affected a recessive allele I.E. Albinism absence of pigmentation Sickle-Cell Anemia Affects hemoglobin can cause severe tissue and organ damage (African Americans) Autosomal Dominant Inheritance a dominant allele on an autosome always expressed to some extent it will affect the population if it is dominant also some dominant alleles do not affect reproduction or they are expressed after reproductive age Huntingtons Disorder Causes progressive degeneration of the nervous system symptoms emerge from age 40 on after most people have had their children Progeria premature aging

X- Linked Recessive Inheritance Mutated gene occurs on the X chromosome. Heterozygous females are phenotypically normal. Males are affected. 1. The recessive phenotype shows up more often in males than females. It can me masked in females it cannot be masked in males who have only one X chromosome 2. A son cannot inherit the recessive allele from his father. A daughter can. If she is heterozygous, there is a 50% chance that each son of hers will inherit the allele. Hemophilia A Affects blood clotting, can die from cuts, males with a recessive allele on their x chromosome are always affected females are carriers - the frequency of hemophilia a was unusually high among the royal families of 19th century Europe who members often intermarried. On rare occasion the structure of a chromosome may change abnormally in the following ways:

Deletion The loss of a chromosome region by radiation, viral attack, chemical action, or other factors. One or more genes may be lost and this nearly always causes problems. Duplication A repeated region in a chromosome. A form of mental retardation results from an abnormally long region of repeats that may block expression of a gene on the X chromosome. Inversion a chromosome segment that separated from a chromosome and then was inserted at the same place in reverse. The reversal alters the position and order of genes. Translocation A part of one chromosome is inserted into another. Controls over the segments genes are lost at the new location and a form of cancer results. Nondisjunction one or more chromosomes fail to separate during meiosis. Some or all of the resulting cells end up with too many or too few chromosomes I.E. Down Syndrome 3 copies of chromosome 21 can also have heart defects chance of having a down syndrome child increases as the mothers age increases varying degrees of special needs Phenotype Treatments: Genetic Screening detect affected persons Genetic counseling know options etc. Diagnosis: Amniocentesis sampling of amniotic fluid Chorionic villus sampling cells from the chorion

Tests for genetic abnormalities Treat the symptoms doesnt eliminate the disorder can still be passed on to future generations Watson and Crick deciphered the DNA structure Double Helix

DNA Structure a DNA molecule is composed of 4 kinds of nucleotides the subunits of nucleic acids. A nucleotide consists of a 5 carbon sugar, a phosphate group, and one of the following: Nitrogen containing bases: Adenine = thymine Guanine = Cytosine Adenine = Uracil Guanine = Cytosine A = T DNA molecule G=C A=U G=C RNA molecule

*nitrogen bases (rungs of latter) are across from the sugars Replication the process by which DNA is duplicated prior to cell division DNA is replicated prior to cell division. Enzymes unwind its two strands. Each strand remain intact throughout the process it is conserved and enzymes assemble a new, complementary strand on each one. Enzymes also repair the DNA where the base pairing errors have crept into the nucleotide sequence.

Chapter 6,7,9

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X Chromosome Inactivation When a female mammal is developing as an embryo certain proteins interact to condense one of the two x chromosomes (which one condenses is by chance). It then blocks the transcription of most genes on the chromosomes. As the embryo goes through cell divisions, each daughter cell inherits the same pattern of X chromosome inactivation that occurred in its parent cell. Either the maternal or paternal X chromosome can be randomly inactivated in the cell lineage that gives rise to a given tissue region. There are patches of tissue in which an allele on the maternal or paternal X chromosome is being expressed. Each gene is a stretch of nucleotides in DNA that calls for the assembly of different amino acids into a polypeptide chain. These chains are the basic structural units of proteins.

Transcription molecules of RNA are produced on DNA templates in the nucleus Translation RNA molecules shipped from the nucleus into the cytoplasm are used as templates for assembling polypeptide chains Template a pattern, mold of form used as a guide in duplicating a shape, structure, or device 3 Types of RNA: 1. Ribosomal RNA components of ribosomes, the structures upon which amino acids are assembled into polypeptide chains (r RNA) 2. Messenger RNA the molecules that carry protein building instructions from DNA to the cytoplasm (m RNA) 3. Transfer RNA It can pick up a specific amino acid and pair it with a mRNA code word for that amino acid. Their action translates mRNA into a sequence of amino acids. (t RNA)

The base sequence in DNA must be preserved from one generation to the next. Gene Mutation Change in the DNA. It is a deletion, addition, or substitution of one to several bases in the nucleotide sequence of a gene. Gene mutations are rare, chance events. On the average, the mutation rate for a gene is only one in a million replications. Some gene mutations are induced by mutagens - environmental agents that can attack a DNA molecule and modify its structure I.E. radiation, viruses, chemicals etc. Repair enzymes do not fix all of them.

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