Ch.

14 Gregor Mendel: grew up on farm in Austria, 21 in 1843=monk, university of Vienna 2 yrs physics + chemistry (influential teachers-physicist Christian Doppler in experimentation and botanist Franz Unger in variations of plant), 1857 bred garden peas; chromosomes were not known ADVANTAGES of PEAs: available in many varieties, short generation time, large 3 of offspring, could strictly control mating Character: heritable feature that varies among individuals trait: each variant for a character P (parent generation) F1 (first filial gen) F2 Law of Segregation : F1 gen had just as purple flowers as parent gen = no blending = purple color and round seeds dominant trait and white color and wrinkled seeds recessive trait, F2 gen 3:1 purple/round to white/wrinkled, Mendels Model for law of S Alternative versions of genes account for variations in inherited characters-Alleles For each character an organism inherits 2 alleles, one from each parent If the 2 alleles at a locus differ, then the dominant allele determines the organisms appearance The 2 alleles segregate/separate during gamete formation and end up in diff gametes Test cross: yy developed by mendel Monohybrids: heterozygous for one character Pp Dihybrids: heterozygous for 2 characters YyRr Law of Independent Assortment : each pair of alleles segregates independently of each other pair of alleles during gamete formation-applies only to allele pairs/genes on diff chromosomes; 9:3:3:1 YR:yR:Yr:yr (dependent would have been 3: 1 YR:yr) Complete dominance : phenotypes of heterozygotes and dominant homozygotes are indistinguishable Incomplete dominance : red + white= pink heterozygotes are a blend 1:2:1 R:P:W Codominance : alleles affect phenotype in separate, distinguishable ways blood type Tay-Sachs disease: inherited-brain cells of child cannot metabolize some lipids =seizures,blind; only happens when child has 2 copies of tay sachs allele(homozygous) Most genes exist in more than 2 allelic forms**bloodtype ABO Dominant alleles are not necessarily more common** Pleiotropy : most genes; have multiple phenotypic effects ; cystic fibrosis, sickle cell Epistasis: a gene at one locus alters the phenotypic expression of a gene at a 2nd locus; a dog with allele for black may turn out white/albino b/c another gene(cc) does not allow pigment to show Quantitative characters: characters vary along a continuum (gradations); skin colorususally indicates polygenic inheritance: effect of 2 or more genes on a single phenotypic character (opp of pleiotropy) Norm of reaction: phenotypic range for a genotype; persons blood count for red/white cells varies Multifactorial: genetic and environment (many factors) influence phenotype Pedigrees; widows peak-dominant allele attached lobe-recessive Child will have widows peak + attached lobes WwFf x WwFf = 3/4 W x f = 3/16 Cystic fibrosis: 1in 2,500; 1 in 25 carriers most common lethal genetic disease in US; dont have normal allele that codes for a membrane protein that transports chloride ions between cells and ex fluid so chloride ion channels are not present in kids w/who have 2 recessive alleles for this; buildup of extracellular CH- mucus to thicken in pancreas, lungs, digestive tract Sickle-cell disease: 1 in 400 most common inherited among Africans; substitution of amino acid in hemoglobin protein of RBCs, when O2 is low the bad hemoglobin molecules go into long rods that deform cells =clumping and clogging vessels trated w/ blood transfusions incompletely dominant: heterozygotes are healthy but some symptoms; protect from malaria Achondroplasia (dwarfism): 1 in 25,000 caused by dominant allele so hetero show dwarfism Huntingtons : 1 in 10,000 degenerative disease of nervous system caused by lethal dominant allele; death usually after reproduction so passed on

Amniocentesis: 14-16 week to see if fetus has tay sachs disease; needle into uterus and takes 10mL of amniotic fluid Chorionic villus sampling: 8-10 weeks tube into cervix into uterus and take sample of placenta karyotyping allowed immediately