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Deterministic genetic models. Terminology. Allele Chromosomes Diploid Dominant Gamete Gene Genotype. Haploid Heterozygous (genotype) Homologous chromosomes Homozygous (genotype) Locus Meiosis Mitosis Panmixia Phenotype. Recessive Recombination Segregation Zygote.
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Terminology Allele Chromosomes Diploid Dominant Gamete Gene Genotype
Haploid Heterozygous (genotype) Homologous chromosomes Homozygous (genotype) Locus Meiosis Mitosis Panmixia Phenotype
Recessive Recombination Segregation Zygote
Mendel’s Laws • Law of segregation • Law of independent assortment
Hardy – Weinberg Principle Two alleles A and B: Relative frequencies: pA, pB Frequencies of genotypes in offspring are: AA BB AB (pA)2 (pB)2 2pApB
Two loci - Recombination Two loci – each with two alleles: A a, B, b Discrete generations, random mating Allele frequencies: pA, pa, pB, pb remain constant over time r – recombination probability pAB(n) – probability of A, B in gener. no n
Two loci - Recombination pAB(n+1)=(1-r) pAB(n)+r pA pB pAB(n+1) - pA pB =(1-r) [pAB(n)- pA pB] pAB(n+1) - pA pB =(1-r)n [pAB(1)- pA pB]
Selection at single locus One locus with two alleles: A, a Discrete generations Random mating Selection, fitness coefficients: fAA, fAa, faa
Allele frequencies in generation no n : pA(n), pa(n) pA(n)+pa(n)=1, Zygote frequencies: pAA(n)=[pA(n)]2, pAa(n)=2 pA(n) pa(n), paa(n)=[pa(n)]2
Zygote freq. with fitness taken into account: p’AA(n)=fAA [pA(n)]2, p’Aa(n)=2 fAa pA(n) pa(n), p’aa(n)=faa [pa(n)]2 Allele frequencies in generation n+1 :
Normalizing factor must be: fAA [pA(n)]2 + 2 fAa pA(n) pa(n) + faa [pa(n)]2 - average fitness in generation no n. No need for two equations. Equation for pA
Equation for evolution pA(n+1)=F[pA(n)] where
Fundamental Theorem of Natural Selection (Fisher, 1930) Average fitness: fAA [pA(n)]2 + 2 fAa pA(n) pa(n) + faa [pa(n)]2 always increases in evolution, or remains constant, if equilibrium is attained.
Equilibria • pAeq=0 • pAeq=1 if belongs to <0,1>
Possible scenarios fAA < fAa < faa - A dies out, a becomes fixed faa < fAa < fAA - a dies out, A becomes fixed Underdominance: fAa < faa , fAA - A1 dies out, A2 becomes fixed if p(0) < peq otherwise A2 dies out, A1 becomes fixed Overdominance fAa > faa , fAA - peq is a stable equilibrium
Example of overdominance Sickle cell anaemia and malaria Two alleles HBA – normal HBS – mutant Homozygotic genotype HBS HBS - lethal Heterozygotic genotype HBA HBS – protects against malaria
Weak selection Transition from difference to differential equation Assume: fAA=1-sAA, fAa=1-sAa, faa=1-saa where is small. Continuous time dt= , which means that t is measured in units of 1/ generations