AP Biology Chapter 14 Mendel and the Gene Idea Original (incorrect) theory of inheritance blending theory genetic material
ial cont ributed by parents gives rise to an intermediate, like mixing paints over time a population will become uniform does not explain how traits can reappear Particulate theory of inheritance (gene idea) discrete heritable units passed on to offspring MENDEL Character heritable feature that varies among individuals Trait each variant for a character True-breeding plant that only possesses genes for one trait of a character Hybridization mating/crossing of two true-breeding plants P generation parental generation; true-breeding F1 generation first filial generation; hybrids; offspring of p generation F2 generation second filial generation; offspring of cross of two F1 or one F1 s elf pollinated Following a cross of the p generation, a F1 generation will show only the domina nt trait Following a cross of the F1 generation, a F2 generation will show both dominant and recessive traits in roughly a 3 to 1 (3:1) ratio Mendels Concepts: Alternative versions of genes account for variations in inherited characters For each character, an organism inherits two alleles, one from each parent If two alleles at a locus differ, one must be dominant and the other must be rec essive Two alleles for a heritable character segregate during gamete formation and end up in different gametes Allele alternative versions of a gene Dominant allele allele that determines the appearance for a character Recessive allele allele that does not contribute to the appearance for a charact er when dominant allele is present Law of segregation - two alleles for a heritable character segregate during game te formation and end up in different gametes Homozygous both alleles are identical for a given trait (2 possible scenarios fo r homozygous case) Heterozygous two alleles are different for a given trait Phenotype observable traits; physical appearance of traits Genotype genetic makeup of traits Testcross breeding an organism of unknown genotype with recessive homozygote Monohybrids heterozygous for only one character; two monohybrids monohybrid cros s Dihybrids heterozygous for two characters; two dihybrids dihybrid cross Law of independent assortment each pair of alleles segregates independently of e ach other pair of alleles during gamete formation Applies only to genes on different chromosomes LAWS OF PROBABILITY Often genetic outcomes are independent events. Previous events and future event
s do not influence independent events. Multiplication Rule two or more independent events occurring together; multiply the probability of one event by the probability of the other event Addition Rule two or more mutually exclusive events occurring; add individual pr obabilities of each event COMPLEX INHERITANCE PATTERNS Complete dominance dominant allele completely masks the other allele when both a re present; only dominant trait observed; classic, mendelian genetic crosses Incomplete dominance dominant allele cannot completely mask recessive; heterozyg ote is an intermediate characteristic Codominance two alleles both affect the phenotype in separate, distinguishable w ays Pleiotropy cases in which genes have multiple phenotypic effects (most genes) Epistasis gene at one locus alters the phenotypic expression of a gene at a seco nd locus Quantitative characters characters vary in populations along a continuum Polygenic inheritance additive effect of two or more genes on a single phenotypi c character Norm of reaction range of phenotypes produced by single genotype influenced by e nvironment Multifactorial characters that vary based on influence of both genetic and envir onmental factors Pedigree family tree describing traits of parents and children across generation s Carriers phenotypically normal heterozygotes that may transmit recessive allele to their offspring HUMAN GENETICS EXAMPLES: Dominant Lethal diseases are less common b/c heterozygotes cannot be carriers all who pos sess dominant allele are affected Polydactyly human inheritable condition caused by a dominant allele resulting in extra fingers or toes Huntingtons disease human genetic disease degenerative disease of nervous system Achondroplasia form of dwarfism; heterozygotes have dwarf phenotype, homozygous recessive die Recessive Majority of afflicted individuals born to normal, heterozygous parents Tay-sachs disease human inheritable recessive disorder involving a dysfunctional enzyme Cystic fibrosis human genetic disease caused by recessive allele for a chloride channel protein; most common lethal genetic disease in the US Codominant Blood type alleles for A & B are codominant, O is recessive Incomplete Dominance Hypercholesterolemia homozygous dominant have normal amounts of LDL receptor pro teins; heterozygotes have number of receptors (2x amount of blood cholesterol), recessives have no receptors (5 x amount of blood cholesterol) Sickle-cell disease human genetic disease caused by substitution of one amino ac
id in hemoglobin protein of red blood cells Multiple Alleles Blood type alleles for O, A & B exist Pleiotropy Sickle-cell disease sickle shape of red blood cells causes multiple symptoms Cystic fibrosis high concentrations of chlorine cause multiple symptoms GENETIC COUNSELING & TESTING Amniocentesis prenatal genetic testing done by inserting a needle into uterus ex tracting amniotic fluid and checking for chemicals in fluid or producing a karyo type of chromosomes from cells cultured from fetal cells in fluid Chorionic villus sampling prenatal genetic testing done by inserting tube throug h cervix into uterus and suctioning out a sample of tissue from placenta and kar yotyping these cells
