D’YOUVILLE COLLEGE BIOLOGY 102 - INTRODUCTORY BIOLOGY II LECTURE # 21 BASIC PATTERNS OF INHERITANCE 1. Heredity & Variation: • genetics must account for faithful transmission of genetic information (heredity) & departures from identical inheritance (variation) • blending hypothesis: popular in early 19th century, the hypothesis proposed a mixing of heritable traits from parents; could not account for why population doesn't become uniform after many generations, nor why some traits 'skip' a generation • particulate inheritance: current theory (established by Gregor Mendel - fig. 14 - 1 & ppt. 1) proposes that inherited traits are determined by discrete particles (genes) that do not mix, but are maintained independently - alternative expressions of a given gene are caused by mutations and are known as 'alleles' (fig. 14 - 4 & ppt. 2) • sexual exchange: shuffling of alleles resulting from chromosomal behavior during meiosis is main source of variation - crossing over extends variation possibilities & random mating multiplies variant possibilities - meiotic daughter cells differ from parental cell – receive only one member of each chromosome pair (either a maternal or paternal homologue); this reshuffling is called recombination, and is a powerful source of variation: e.g., for species #, n = 2, number of possible gamete types is 4 (22) (fig. 13 – 10 & ppt. 3); for species # = n, 2n gamete types are possible, e.g. in humans (n = 23), 223 = about 8 million types - random fertilization (gamete combination): any of 8 million sperm types may fertilize any of 8 million egg types: 64 trillion possible variants in offspring! Bio 102 lec. 21 - p. 2 - crossing over extends the # of variant possibilities to much larger # (fig. 13 - 11 & ppt. 4) Bio 102 lec. 21 - p. 3 2. Mendelian Genetics: • Mendel: conducted first systematic experiments on inheritance (with meticulous mathematical analysis) using controlled matings: self fertilization or cross fertilization (hybridization) between different true breeding varieties (P generation); observed offspring of at least two successive generations (first filial, F1, and second filial, F2 generations) (fig. 14 – 2 & ppt. 5) - suggested particulate inheritance (gene idea) - found seven true breeding characters showing pairs of contrasting traits in pea plants (table 14 – 1, ppts. 6 & 7) 3. Monohybrid crosses: demonstrated dominance in F1 • self crosses (F1 x F1) demonstrated reappearance of recessive trait in offspring (F2) - dominant to recessive ratio is 3 : 1 (fig. 14 – 3 & ppt. 8) • genotype & phenotype: - pair(s) of “factors” (genes) constitute genotype (alternative alleles) - expressed trait for a given character = phenotype, e.g., for the character of flower color, traits were purple and white • homozygous & heterozygous: - true breeders have two representatives of same allele (= homozygous); hybrids have one representative of each of two different alleles (= heterozygous) (fig. 14 – 6 & ppt. 9) Bio 102 lec. 21 - p. 4 • law of segregation of characters: each member of an allelic pair goes to a separate gamete; correspondence with chromosome behavior at meiosis (fig. 14 – 5 & ppt. 10) - laws of probability, e.g., coin flip ( fig. 14 - 9 & ppt. 11): probability of a 'head' = 1/2 = probability of a 'tail' - product rule: probability of two events occurring together = their individual probabilities multiplied together - sum rule: if a given outcome can occur in more than one way, the probability of the outcome is the sum of probabilities of each way, e.g., probability of a 'head' & a 'tail' may be 1/4; however, probability of a 'tail' & a 'head' (reverse order) is also 1/4; thus, the probability of a 'head' with a 'tail' in either order is 1/4 + 1/ = 1/ 4 2 • confirmations of genotypes: F2 selfed: 25% breed true for dominant trait; 25% breed true for recessive trait; 50% show pattern of hybrid (heterozygous) F1 • test cross (unknown crossed with homozygous recessive) produces 1 : 1 ratio of dominant to recessive (fig. 14 - 7 & ppt. 12) 4. Plasticity of dominance: dominance ranges from complete to incomplete to codominance • incomplete dominance: flower color in snapdragons (fig. 14 - 10 & ppt. 13) Bio 102 lec. 21 - p. 5 • codominance: in M/N blood groups, heterozygotes have equal #s of M molecules and of N molecules on their red cells • level of phenotypic analysis: whether dominance is complete, incomplete, or a case of codominance is contingent upon level of phenotypic analysis: e.g. TaySachs disease in humans: - organismal level, homozygotes with 'dominant' allele & heterozygotes are both disease-free (= complete dominance) - biochemical level, homozygotes who are disease-free have complete activity for a lipid-metabolizing enzyme, homozygotes who suffer from Tay-Sachs disease have no activity for the enzyme, while heterozygotes have one-half the usual activity (= incomplete dominance) - molecular level, homozygotes have either the normal enzyme or the faulty enzyme, while heterozygotes have equal amounts of both (= codominance) 5. Multiple alleles: more than two alternative expressions for a single gene • ABO blood groups have four main phenotypes: type A, type B, type AB, & type O, based on pairs of three separate alleles (IA, IB, & i) - IA& IB alleles are both completely dominant to i, but codominant to each other (fig. 14 - 11 & ppt. 14)