SCIENTIFIC METHOD Hypothesis: tentative answer to some question; must be testable & falsifiable Theory: explanation of idea that

a that is broad in scope w/ multiple lines of evidence Controlled experiment: 2 groups are used, they differ by only a single variable Discovery science: observation; Hypothesis-based science: data from discovery, requires proposing/testing Deductive: conclusion follow from premises; Inductive: generalizations based on individual occurrences Scientific method: observation, hypothesis, predictions, experiment, conclusions

PRINCIPLES OF LIFE Order, regulation, growth/development, energy processing, response to environment, reproduction, evolutionary adaptation Biosphere (earth), ecosystem (FL coast), community (all organisms on FL coast), population (group of brown pelicans), organism (brown pelican), organ system, organs, tissues, cells, organelles, molecules Cells: smallest unit of life; have membrane & DNA (genetic material) Prokaryotic: simple/small; no nucleus/organelles; has membrane; bacteria & archaea Eukaryotic: organelles separated by membranes; nucleus; plants, animals, fungi 3 groups of life: bacteria (prokaryotic, unicellular, tiny); archaea (prokaryotic, unicellular, tiny); eukarya (eukaryotic, nucleus/organelles) Evolution: basis for diversity & unity of life Natural selection requires: inheritance of traits, differential reproductive success, variation among individuals CHEMISTRY 1 Element: cant be broken down to other substances; 92 in nature; life requires 25 (some called trace) Compound: substance w/ 2 or more elements; molecules = substance w/ 2 or more atoms DNA = C, H, O, N, P Carbohydrates: C, H, O Lipids: C, H, O, P Proteins: C, H, O, N, S Atom: smallest unit of matter still retaining property of element Proton: single + charge; mass = 1 Electron: single charge; mass = 0 Neutron: no charge; mass = 1 Proton # determines properties of element (proton # = atomic #) Protons + neutrons = atomic mass # Atoms can have 1, 2 or 3 electron shells; electron in outer shell determines chemical properties; 1st shell = 2, 2nd & 3rd = 8 Atoms want to fill outer electron shells: share, donate, receive electrons Isotopes: have same atomic number (protons & electrons) but differ in mass number (neutrons); carbon 12 = 6 neutrons, carbon 14 = 8 Ion: atom/molecule with electrical charge resulting from gain/loss of electrons; electron lost: + charge; electron gained: - charge Ionic bond: when attraction holds ions together Covalent bond: when atoms share outer-shell electrons; molecule is formed when atoms held together by covalent bonds Polar covalent molecule: atoms continually compete for shared electron; electronegativity = attraction/pull for electron Water molecule = polar covalent bond = O atom area has slight negative charge; hydrogen area has slight + charge Nonpolar covalent bonds: molecules of only one element w/ same electronegativity = equal pull Hydrogen bond = H (as part of polar covalent bond) attracts other atoms/molecule w/ negative charge Water molecules electrically attracted to oppositely charged regions on neighboring molecules Since positively charged region is always a hydrogen atom, its called hydrogen bond (hydrogen is + and attaches to oxygen which is - ) Water molecule = Positive H of one water molecule bonds w/ negative O of other water molecule Properties of water (due to H bonding): cohesion/adhesion, hold heat, density of ice, universal solvent (results from its polarity) Water molecules can break apart into ions: hydrogen ions (H+) & hydroxide ions (OH-) Acids: add H+ to solution; bases: remove H+ from solution PH scale (potential of hydrogen); 0 14; each step is 10x difference in H+ concentration Buffers: resist a change in pH; does not neutralize; maintains near constant pH CHEMISTRY 2 Carbon is structural backbone of all organic molecules; can make up to 4 chemical bonds Organic molecules contain at least C & H Functional groups: determines chemical property of organic compounds

 Hydroxyl group (OH): hydrogen bonded to oxygen (alcohol) Carboxyl group (COOH): carbon double-bounded to both oxygen and a hydroxyl group (carboxylic acid) Amino group (NH2): nitrogen bonded to 2 hydrogen atoms and carbon skeleton (anime) Phosphate group (OPO32-): phosphorous atom bonded to 4 oxygen atoms (ATP) Polymers = large molecule made of smaller subunits (monomer) Dehydration synthesis: build polymers from monomers; hydrolysis: breakdown polymers Carbohydrates: range from small sugar molecules to large polysaccharides; function = energy, energy storage, structure C, H, O in 1:2:1 ratio If it ends in ose, its a carb Monosaccharides = glucose/fructose; polysaccharides = starch/cellulose & are hydrophilic Lipids: hydrophobic compounds important to energy storage; twice as much energy as polysaccharide; function = energy, energy storage, structure C, H, O, P Subunit = fatty acids Non-polar Unsaturated fatty acids (oils): double bond between carbon, bent at double bonds Saturated fatty acids (fat): no double bond, carbon filled w/ hydrogen Phospholipids: structurally similar to fat Proteins: polymer built from various combination of 20 amino acid monomers; have unique structure related to their functions C, H, O, N, S Enzymes, cell structure, immunity, etc Most abundant biological molecule in cells Amino acids (building blocks of protein) have amino group & carboxyl group; both covalently bonded to central carbon atom; Also bonded to central carbon is hydrogen atom and other chemical group symbolized by R Each type of AA has specific R group which determines characteristics of amino acid Can be hydrophobic, hydrophilic, acidic, basic Peptide bond: covalent bond between amino acids in protein; links carboxyl group of one AA to the amino group of next AA Polypeptide chain contains hundreds/thousands of AA links by peptide bonds Sequence of AA and their chemical characteristics causes the polypeptide to assume particular shape; shape of a protein determines its specific function 4 levels of protein structure: primary (unique AA sequence), secondary (folding of polypeptide), tertiary (overall 3D shape), quaternary (2 or more polypeptide chains associate to form this) TOUR OF CELL Cell theory: all living things are composed of cells & all cells come from other cells Surface area is important for carryout out cells functions (small cell has more surface area relative to volume = more efficient) 2 types of cell structure: both w/ plasma membrane & 1 or more chromosomes/ribosomes Prokaryotic (bacteria & archaea): nucleoid and no true organelles Eukaryotic (everything else): membrane-bound nucleus & organelles; life processes in eukaryotic cells depend on structure & organelles Plant cells dont have lysosomes & centrioles, but do have cell wall, chloroplasts, central vacuole Manufacturing Nucleus (central office): DNA/RNA synthesis; assembly of ribosomal subunits (in nucleoli) Ribosomes (assembly line): polypeptide (protein) synthesis, free (suspended in cytoplasm) or bound (attached to ER) Rough ER (conveyor belt): lines outer surface of membrane; synthesis of membrane lipids & proteins, secretory proteins, hydrolytic enzymes; formation of transport vesicles Smooth ER (conveyor belt): lacks attached ribosomes; involved in diverse metabolic processes (synthesis of lipids, oils, steroids, etc) Golgi apparatus (packaging/shipping): modification/transport of macromolecules; formation of lysosomes & transport vesicles Breakdown Lysosomes (animal cells) (collection center): membranous sac; digestion of ingested food/bacteria/cells damaged organelles/macromolecules for recycling; contains digestive enzymes; Vacuoles (storage): membranous sac; digestion (like lysosomes); storage of chemicals; cell enlargement; Water balance Peroxisomes (not part of endomembrane system): diverse metabolic processes, with breakdown of H2O2 by-product Energy processing Mitochondria (generator): cellular respiration; intermembrane space & mitochondrial matrix (energy)

 Chloroplasts (plants): conversion of light energy to chemical energy of sugars Support, movement, communication Cytoskeleton (cilia, flagella, centrioles in animal cells) (bricks/steel): maintenance of cell shape; anchorage for organelles; movement of organelles within cells; cell movement; transmission of signals from exterior of cell to interior Extracellular matrix (animals): binding of cells in tissues surface protection regulation of cellular activity Cell junctions: communication between cells; binding of cells in tissues Cell walls (plants): maintenance of cell shape & skeletal support; surface protection; binding of cells in tssues Plasma membrane: controls movement of molecules in/out of cell; phospholipid bilayer w/ proteins & carbs; hydrophilic head out (towards water), hydrophobic tail in) Endomembrane system: includes nuclear envelope, ER, GA, lysosomes, vacuoles, plasma membrane; function is synthesis, storage, export of molecules CELL MEMBRANE & TRANSPORT Cell membrane: phospholipids & proteins; fluid mosaic (proteins embedded in phospholipids that can drift about); hydrophilic head of protein comes out top & bottom; hydrophobic tail of protein embedded in phospholipid bilayer Membrane is semi-permeable; substances move by diffusion, osmosis, facilitated diffusion, active transport Diffusion: particles move from high to less are of concentration (down concentration gradient), eventually require equilibrium Osmosis: diffusion of water; moves from area of high water concentration to area of low water concentration Tonicity: ability of solution to cause cell to gain/lose water depending on concentration of solutes on both sides of membrane Isotonic: concentration same on both sides; animal = normal; plant = flaccid Hypertonic: solution has higher osmotic concentration than cell, water drawn out of cell; animal = shriveled; plant = plasmolyzed Hypotonic: solution has lower osmotic concentration than cell, water drawn into the cell (water moves from low solute to high solute); animal = lysed; plant = turgid Facilitated diffusion: transport of substances across membrane (from area of high concentration to low) by means of carrier protein; no energy required; Example: charged molecules/ions dissolved in water cant diffuse freely across membrane due to hydrophobic lipids, they require proteins forming transmembrane channels Active transport: molecules move against concentration gradient (from low to high concentration); requires energy (supplied through respiration using ATP); requires assistance of carrier protein Phosphorylation: transfer of a phosphate group (catalyzed by enzymes) from a donor to a suitable acceptor Transport of large molecules: endocytosis & exocytosis Phagocytosis: cellular eating; cell engulfs macromolecules/other cells/particles into its cytoplasm Pinocytosis: cellular drinking; cell takes fluid & dissolved solutes into small membranous vesicles Receptor-mediated phagocytosis: movement of specific molecules into cell by inward budding of membranous vesicles, which contain proteins with reception sites specific to the molecules being taken in. CELLULAR RESPIRATION AND FERMENTATION Energy: ability to do work 1st law of thermodynamics: energy in the universe is constant, can be neither created nor destroyed 2nd law of thermodynamics: energy conversions increase disorder in universe, never 100% efficient; entropy Exergonic reaction releases energy (from covalent bonds of reactants) Endergonic reaction: requires input of energy & yields products rich in potential energy Metabolism: total of all chemical reactions in cell Metabolic pathway: series of chemical reactions that either break down or build up a complex molecule Anabolic: builds molecules from smaller units, usually requires energy input (ATP) Catabolic: breaks down complex molecules into smaller units, releasing energy Aerobic respiration: requires O2; breakdown into CO2 & H2O; 36-38 ATP molecules; final electron acceptor = O2 Anaerobic respiration: no O2 required; process of generation energy by oxidation of nutrients; final electron acceptor = nitrate, nitrite, sulfate Fermentation: partially degrades energy sources; pyruvate receives electrons from glucose (and is reduced) becoming waste, 2 ATP molecules per glucose molecule, waste depends on organism & fermentation enzymes ATP: energy currency; immediate source; renewable Structure: adenine (nitrogenous base) attached to ribose (5-carbon sugar) attaches to 3 phosphate groups Chemical energy stored in covalent bonds between phosphate groups When energy is released in exergonic reaction (breakdown of glucose) its used in endergonic reaction to generate ATP When energy from ATP is needed, its broken down to ADP (through hydrolysis) Cycle: energy from exergonic reactions > phosphorylation > ATP > hydrolysis > energy for endergonic reactions > ADP + P

 Glucose, carbs, proteins, fats can be used to generate ATP Enzymes: protein catalysts that speed rate of chemical reactions by lowering activation energy; names end in ase Substrate: particular molecule enzyme acts upon Active site: area here enzyme acts upon substrate Temperature, pH, salt (ion) concentration Some enzymes require non-protein helpers: cofactors (inorganic) such as zinc, iron, copper; coenzymes (organic) often vitamins During glycolysis: important coenzyme is NAD+, a proton/electron carrier essential to aerobic respiration Competitive inhibitors: inhibit by competing for active site, blocking substrates from entering Non-competitive inhibitors: bind elsewhere changing shape of enzyme so substrate wont fit Feedback inhibition: product of metabolic pathway serves as inhibitor to one enzyme in pathway; used in aerobic respiration Cellular respiration: exergonic process that transfers energy from bonds in glucose to ATP; controlled by oxidation of glucose & other organic molecules 38 ATP molecules for each glucose molecule Glucose (C6H12O6) + 6 O2 > 6 CO2 (carbon dioxide) + 6 H2O (water) + ATPs (energy) OIL RIG: oxidation is loss of hydrogen atoms; reduction is gain of hydrogen atoms NAD+ is important coenzyme; carriers electrons & protons; reduces (NADH) when it accepts electrons; oxidized when it gives them up FAD: same function as NAD+, just used in different places Phosphorylation: Addition of a phosphate group to a molecule (ADP + P = ATP) Photophosphorylation: plants, photosynthesis Substrate level: synthesis of high-energy phosphate bonds through reaction of inorganic phosphate with activated organic substrate Oxidative: metabolic pathway that generates ATP from ADP through phosphorylation that derives the energy from oxidation of nutrients Glycolysis: substrate level phosphorylation; cytoplasm; substrate = glucose; no O2 required Splits glucose (6C) into 2 pyruvic acids (pyruvate) which is a 3C molecule Products: 2 ATP, 2 NADH, 2 pyruvate Pyruvate processing: outer membrane of mitochondria; substrate = pyruvic acid Pyruvate (3C) is converted into Acetyl-CoA (2C) before entering Krebs cycle Products: Acetyl-CoA, CO2, NADH Krebs cycle: substrate level phosphorylation; occurs in mitochondrial matrix; substrate = 2 Acetyl-CoA; O2 required Major products: NADH & FADH2 (e- & h+) 2 turns of cycle per glucose molecule Products: 6 NADH, 2 FADH2, 4 CO2, 2 ATP Electron transport: oxidative phosphorylation; mitochondrial inner membrane Chemiosmosis: proton concentration/electrical gradient is set up, and the movement of protons down this gradient powers ATP production via oxidative phosphorylation ATP Synthase makes ATP from ADP Oxygen: final electron acceptor picks up protons/electrons used in chemiosmosis, forms water as end product At end of respiration, NADH is oxidized to NAD+ (can then be used for glycolysis & citric acid cycle) Fermentation: anaerobic (without oxygen) energy-generation process; organic molecule (pyruvate) final electron acceptor Uses glycolysis, producing 2 ATP molecules, reduced NAD+ to NADH Fermentation is used to recycle NADH/NAD+ without oxygen, so glycolysis & ATP production can continue Lactic acid fermentation: conversion of pyruvate to lactate (muscle cells, bacteria); 2 ATP per glucose Alcohol fermentation: conversion of pyruvate to ethanol and CO2 (yeast); 2 ATP per glucose Glucose, carbs, proteins, fats can be used to generate ATP DNA REPLICATION AND PROTEIN SYNTHESIS DNA structure: nucleotide (monomer unit) containing 1 nitrogenous base (A, G, T or C / A, G, U or C); 5-carbon sugar (deoxyribose); phosphate group 2 types of bases: purines (double ringed A/G); pyrimidines (single ring T/C); purine # = pyrimidine # Chargaffs rule: same # of As & Ts; same # of Gs & Cs 2 chains joined by hy bonding between bases (double helix); sugar-phosphate backbone; bases perpendicular to backbone; base pairs give uniform shape (A/T = 2 hy bonds, G/C = 3 hy bonds) DNA nucleotide structure: deoxyribose & A/G/T/C; molecule structure: double stranded: eukaryotes: nucleus only RNA nucleotide structure: ribose & A/G/U/C; molecule structure: single strand; eukaryotes: throughout cell

 DNA replication: semi conservative; new molecule = 1 old & 1 new strand; each strand used as pattern to produce complementary strand using base pairing rules DNA can be faithfully copied because new DNA is built using existing DNA as template Genetic information flows from: DNA > RNA > Protein Genotype & phenotype Genotype: genetic makeup of organism Phenotype: characteristics of organism; presence & actions of proteins determine phenotype Gene: sequence of DNA that directs synthesis of specific protein DNA transcribed to RNA (rewrite); RNA translated to protein (convert info) 1 gene-1 polypeptide hypothesis: some proteins are composed of multiple polypeptides Inside nucleus { DNA (nucleic acid) > Transcription > RNA (nucleic acid) } ; Inside cytoplasm { Translation > Protein (amino acid) Genetic code Sequence of nucleotides in DNA provides a code (codons) for constructing a protein; uses letters A/T/C/G DNA strand > Transcription > RNA (3 letter codons) > Translation > Polypeptide (each codon = amino acid) 64 codons possible; only 20 amino acids; 61 codons correspond to amino acids; AUG = methionine & start; stop = UAA, UAG, UGA Redundant (some amino acids have multiple codons); unambiguous (each codon has 1 amino acid); adjacent (no gaps); universal Protein Synthesis Messenger (mRNA) carries genetic code to ribosomes Ribosomal (rRNA) component of ribosomes Transfer (tRNA) carries amino acids to ribosomes; Anticodon allows tRNA to bind to specific mRNA Gene expression: transcription (make a mRNA copy of DNA); translation (make polypeptides based on codon sequence of mRNA) Transcription 2 DNA strands separate; 1 strand used as pattern to produce RNA chain using base specific pairings (A in DNA = U in RNA); RNA polymerase builds mRNA from DNA template tRNA molecules match amino acid to corresponding mRNA codon (anticodon helps); A w/ U, G w/ C; tRNA structure lets it convert 1 language to the other (works w/ rRNA responsible for translation) Ribosomes: have binding sites for mRNA & tRNA Translation: occurs on ribosome surface 2 subunits (large & small) composed of ribosomal RNAs & proteins; subunits come together during translation Translation 2 steps: mRNA binds to small ribosome subunit & 1st tRNA binds to mRNA at start codon (AUG); large & small subunits join, allowing ribosome to function Elongation: addition of amino acids to polypeptide chain, continues until ribosome reaches stop codon Codon recognition: next tRNA binds to mRNA at the A site Peptide bond formation: joining of new amino acids to chain Translocation: tRNA released from P site, ribosomes move tRNA from A to P site Termination: completed polypeptide released; subunits separate; mRNA released (can be translated again) Mutation Change in the nucleotide sequence of DNA; ultimate source of genetic variations; mutations can be spontaneous (errors in DNA replication or recombination) or induced by mutagens (radiation, chemicals) Base substitutions: replace 1 nucleotide w/ another; effect depends on whether amino acid change alters function of protein Deletions/insertions: alter reading frame of mRNA (nucleotide grouped into different codons); leads to significant change in amino acid sequence downstream of mutation; nonfunctional polypeptide produced Substitution mutation effects: silent (no effect); missense (single amino acid in mutant protein altered); nonsense (1 codon changed to stop codon, non-functional protein produced)

CELL CYCLE, MITOSIS, MEIOSIS Cell cycle & chromosomes Interphase (duplicate cell contents): G1 growth, increase cytoplasm; S chromosome duplication; G2growth, prepare for division Mitotic phase (division): Mitosis nucleus division; cytokinesis cytoplasm division Chromosomes: composed of chromatin (DNA + protein) S stage (DNA/chromosomes replicate): chromosome appears as 2 sister chromatids (joined at centromere), w/ identical DNA molecules Somatic cells have pairs of homologous chromosomes (1 from each parent); matched in length, centromere position, gene location Mitosis & cytokinesis Mitosis functions: asexual reproduction, growth, repair/replace cells Interphase: chromosome duplicate (S phase); nucleoli (site of ribosome assembly) visible Prophase: chromosome coil/compact; nucleoli disappear

Prometaphase: spindle grows; nuclear envelope disappear Metaphase: spindle formed; chromosomes align cell equator Anaphase: sisters separate at centromeres; daughters towards opposite poles; cell elongates Telophase: nuclear envelope around chromosomes at each pole (establishing daughter nuclei); chromatin uncoil; nucleoli back; spindle gone Cytokinesis: cytoplasm divides; cleavage in animals, cell plate in plants Meiosis Converts diploid (2 homologous sets of chromosomes) to haploid (1 set of chromosomes); occurs in sex organs; produces gametes Fertilization: union of egg/sperm; zygote diploid chromosome # (1 set from each parent) Meiosis I: homologous chromosomes separate (chromosome # reduced by ); final cells haploid (2 of them) Prophase I: chromosomes coil/compact; homologous chromosomes pair (synapsis); each pair w/ 4 chromatids (tetrads); nonsister chromatids exchange genetic material by crossing over Metaphase I: tetrads align at cell equator Anaphase I: homologous pairs separate & move towards opposite poles Telophase I: duplicated chromosomes at poles; nuclear envelope forms around chromosomes (in some species); each nucleus has haploid number of chromosomes Meiosis II: sister chromatids separate (chromosome # remains the same); final cells haploid (4 of them) Prophase II: chromosomes coil/compact Metaphase II: duplicated chromosomes align at cell equator Anaphase II: sisters separate & chromosomes move to opposite poles Telophase II: chromosomes at poles; nuclear envelope forms around each set of chromosomes; w/ cytokinesis 4 haploid cells produced Mitosis vs meiosis Both involve one duplication of chromosomes Unique to meiosis: 2 divisions; pairings of homologous chromosomes; crossing over (exchange of genetic material) Mitosis outcome: 2 genetically identical cells with same chromosome # as original Meiosis outcome: 4 genetically different cells with half chromosome # as original Genetic diversity Crossing over (prophase I): exchange of genetic material between homologous chromosomes; results in new combo of genes Nonsister chromatids join at a chiasma (attachment/crossing over site); Corresponding amounts of genetic material exchanged between maternal and paternal (nonsister) chromatids Independent Assortment (metaphase I): independent orientation of homologous chromosomes Each pair of chromosomes independently aligns at the cell equator; equal probability maternal or paternal chromosome facing a given pole The number of combinations for chromosomes packaged into gametes is 2n where n = haploid number of chromosomes Random fertilization: Combination of each unique sperm with each unique egg increases genetic variability Mitosis 1 2 Asexual repro; growth; repair/replace Somatic No Diploid (2n); identical to parent Chromosomes duplicate (chromatids); no pairing of homologs Chromosomes (paired chromatids) line up at equator Chromatids separate (centromeres divide) 2 identical cells formed Meiosis 2 4 (tetrad) Sexual repro; creates egg/sperm Sexual (gametes) Yes Haploid (1n); unique Chromosomes duplicate (chromatids); like chromosomes pair (homologs) Paired chromosomes (4 chromatids) line up at equator Chromosome pairs separate; chromatids stay together 2 nucleii or cells formed; each w/ 1 set of chromosomes (paired chromatids) Chromosomes (paired chromatids) condense Paired chromatids line up at equatorial plate Separation of chromatids (centromeres divide) Formation of 4 cells (each haploid) Reduction division (diploid > haploid)

# divisions # cells produced Purpose Tissue Crossing over Final cells Prophase Metaphase Anaphase Telophase Prophase II Metaphase II Anaphase II Telophase II Process

Cell duplication (diploid > diploid)

PATTERNS OF INHERITANCE Law of segregation: allele pairs separate from each other during the production of gametes so that a sperm or egg carries only one allele for each gene Monohybrid cross tests single gene: parents purple x white; F1 all purple; F2 purple, white Genotype refers to the alleles (alternative versions of genes) an individual carries for a specific gene For each characteristic (gene), organism gets 1 allele from each parent (2 total); can be homozygous (same) or heterozygous (different) If alleles differ, dominant allele determines appearance Phenotype: appearance/expression of trait; same phenotype may be determined by more than one genotype Chromosomes & alleles Homologous chromosomes: alleles of gene reside at same locus Homozygous individuals: same allele on both homologues; heterozygous: different allele on each homologue Law of independent assortment: each pair of alleles separates independently of the other pairs of alleles during gamete formation For genotype RrYy 4 gametes are possible: RY, Ry, rY, ry Dihybrid cross (9:3:3:1 ratio): parents round yellow x wrinkled green; F1 all round yellow; F2 9/16 round yellow, 3/16 round green. 3/16 wrinkled yellow, 1/16 wrinkled green Testcross: mating of unknown genotype x homozygous recessive; will show whether unknown genotype includes recessive allele; used to confirm true-breeding genotypes Genotype unknown because dominant phenotype can be either homozygous dominant or heterozygous recessive Dog example: Black (B_) x Chocolate (bb); black can be BB (leading to all black pups) or Bb (leading to 1 black & 1 chocolate pup) Probability: # of ways that event can occur out of the total possible outcomes Rule of multiplication (independent events): multiply probability of events that must occur together (rolling dice) If A & B are events: P (A & B) = P(A) x P(B) Rule of addition (mutually exclusive events): add probabilities of events that can happen in alternate ways If A & B are events: P(A or B) = P(A) + P(B) Pedigree: shows inheritance of train in family through multiple generations Demonstrates dominant or recessive inheritance Can be used to deduce genotype of family members Dominant & recessive traits: dominant: freckles, widows peak, free earlobe; recessive: no freckles, straight hairline, attached earlobe Genetic disorders Recessive inheritance: 2 recessive alleles needed to show disease; heterozygous parents are carriers of disease allele; probability of inheritance increases w/ inbreeding; sickle cell = recessive Dominant inheritance: 1 allele needed to show disease; dominant lethal alleles usually eliminated in population Extensions to Mendelism Incomplete dominance: neither allele is dominant; expression of both alleles observed as intermediate phenotype in heterozygous person Multiple alleles: more than 2 alleles found in population; diploid individual can carry any 2 of them; ABO blood group has 3 alleles leading to 4 phenotypes (type A, B, AB, and O blood) Codominance: neither allele is dominant; expression of both observed as distinct phenotype in heterozygous person; type AB blood Pleiotropy: 1 gene influencing many characteristics; sickle-cell affects type of hemoglobin, shape of red blood cells, causes anemia & organ damage, related to getting malaria Polygenic inheritance: many genes influence 1 trait; skin color (at least 2 genes); height Phenotypic variations are influence by environment; skin color & sunlight exposure; disease susceptibility - hereditary/environmental Chromosomes & inheritance Mendels Laws correlate with chromosome separation in meiosis; law of segregation depends on separation of homologous chromosomes in anaphase I; independent assortment depends on alternative orientations of chromosomes in metaphase I Linked genes: located close together on same chromosome; tend to be inherited together Bateson & Punnett example: parents purple/long x red/round; F2 didnt show 9:3:3:1 ratio, most had purple/long or red/round Linked alleles can be separated by crossing over; recombinant chromosomes are formed; geneticists measure genetic distance by recombination frequency Sex-linked genes X-linked: passed from mother to son or daughter & from father to daughter Y-linked: passed from father to son Reciprocal crosses show different results: white-eye female x red-eye male = red-eye females & white-eye males; red-eye female x whiteeye male = red-eye female & red-eye males Males express X-linked disorders (hemophilia, color-blind) when recessive alleles are present in one copy