1 Hardy-Weinberg Equilibrium Lecture 5 2 The Hardy-Weinberg Equilibrium 3 Hardy-Weinberg Theorem Hardy-Weinberg original proportions of genotypes in a population will remain constant from generation to generation - - Sexual reproduction (meiosis and fertilization) alone will not change allelic (genotypic) proportions. 4 Assumptions of the H-W Theorem 1.Large population size -small populations can have chance fluctuations in allele frequencies (e.g., fire, storm, floods). 5 Assumptions of the H-W Theorem 2. No migration - immigrants can change the frequency of an allele by bringing in new alleles to a population. 3. No net mutations -if alleles change from one to another, this will change the frequency of those alleles 6 Assumptions of the H-W Theorem 4. Random mating - if certain traits are more desirable, then individuals with those traits will be selected and this will not allow for random mixing of alleles. 5. No natural selection - if some individuals survive and reproduce at a higher rate than others, then their offspring will carry those genes and the frequency will change for the next generation. 7 Hardy-Weinberg Theorem (2 alleles at 1 locus) Allele freq. f(A) = p f(a) = q p + q = 1 Sum of all alleles = 100% Gametes A (p) a(q) A(p) AA (pp) Aa (pq) a(q) aA (qp) aa (qq) Genotypic freq. f(AA) = p2 Dominant homozygous f(Aa) = 2 pq Heterozgous f(aa) = q2 Recessive homozygous p2 + 2 pq + q2 = (p+q)2 = 1 Sum of all genotypes = 100% AA = p*p = p2 Aa = pq + qp = 2pq aa = q*q = q2 8 Hardy-Weinberg Principle The gene pool of a non-evolving population remains constant over multiple generations; i.e., the allele frequency does not change over generations of time. The Hardy-Weinberg Equation: binomial expansion (p+q)2 = p2 + 2pq + q2 = 1.0 p2 = frequency of AA homozygous genotype; 2pq = frequency of Aa plus aA heterozygous genotypes; q2 = frequency of aa homozygous genotype 9 Assumptions of the H-W Equilibrium 10 Assumptions of the H-W Equilibrium 11 Assumptions of the H-W Equilibrium for a population with genotypes: calculate: Genotype frequencies 100 GG 160 Gg 140 gg Phenotype frequencies Allele frequencies 12 Assumptions of the H-W Theorem for a population with genotypes: 100 GG 160 Gg calculate: Genotype frequencies 260 100/400 = 0.25 GG 0.65 160/400 = 0.40 Gg 140/400 = 0.35 gg Phenotype frequencies 260/400 = 0.65 green 140/400 = 0.35 brown 140 gg Allele frequencies 2*100 + 160/800 = 0.45 G 2*140 + 160/800 = 0.55 g 13 Assumptions of the H-W Theorem another way to calculate allele frequencies: Genotype frequencies 100 GG 160 Gg 0.25 GG 0.40 Gg 0.35 gg G 0.25 G 0.40/2 = 0.20 g 0.40/2 = 0.20 g 0.35 Allele frequencies 140 gg 360/800 = 0.45 G 440/800 = 0.55 g OR [0.25 + (0.40)/2] = 0.45 [0.35 + (0.40)/2] = 0.65 p (G) = D + H/2 q (g) = R + H/2 14 Hardy-Weinberg Equilibrium Population of cats n=100 16 white and 84 black aa = white A_ = black Can we figure out the allelic frequencies of individuals AA and Aa? 15 Hardy-Weinberg Equilibrium p2 + 2pq + q2 and p+q = 1 (always two alleles) 16 cats white = 16 (aa) then (q2 = 16/100 = 0.16) This we know we can see and count!!!!! If p + q = 1 then we can calculate p from q2 q = square root of q2 = q √0.16 q = 0.4 p + q = 1 then p = 0.6 (0.6 +0.4 = 1) P2 = 0.36 All we need now are those that are heterozygous (2pq) (2 x 0.6 x 0.4)=0.48 0.36 + 0.48 + 0.16 = 1 16 Hardy-Weinberg Equilibrium 17 Example use of H-W theorem 1000-head sheep flock. No selection for color. Closed to outside breeding. 910 white (B_); 90 black (bb) Start with known: f(black) = f(bb) = 0.09 =q2 q q .09 0.3 f (b) 2 Then, p = 1 – q = 0.7 = f(B) f(BB) = D = p2 = (0.7)2 = 0.49 f(Bb) = H = 2pq = 2 * 0.7 * 0.3 = 0.42 f(bb) = R= q2 = (0.3)2 = 0.09 18 In summary: Allele freq. f(B) = p = 0.7 (est.) f(b) = q = 0.3 (est.) Genotypic freq. f(BB) = p2 = 0.49 (est.) f(Bb) = 2pq = 0.42 (est.) f(bb) = q2 = 0.09 (actual) Phenotypic freq. f(white) = 0.91 (actual) f(black) = 0.09 (actual) 19