2/14/09 Hardy-Weinberg Principle 1. Random mating 2. No mutations 3. No natural selection 4. Very large population size 5. No movement into or out of the population. Are these common? 1 2/14/09 One or more conditions is ALWAYS missing Therefore it is impossible in nature! It is an ideal baseline against which we can measure genetic change. Some populations, the rate of evolution is so low, that they are close to equilibrium We can use the Hardy-Weinberg Equilibrium to estimate allele frequency Allele frequency of A = p Allele frequency of a = q And p + q = 1 Frequency of AA = p2 Frequency of aa = q2 Frequency of Aa = 2pq So, Hardy Weinberg Equation is p2 + 2pq + q2 = 1 2 2/14/09 You are studying the gene that regulates interlocking fingers in a small isolated village with a population of 2500 individuals. It is already known that a dominant allele (F) causes one to interlock their fingers in such a way that the left thumb is nearly always on top, while a recessive allele (f) in the homozygous conditions results in the right thumb being on top Data Collected: Left thumb over right = 2275 individuals = FF, Ff genotypes Right thumb over left = 225 individuals = ff genotype Data Collected: Left thumb over right = 2275 individuals = FF, Ff genotypes Right thumb over left = 225 individuals = ff genotype Since there are 2500 individuals in the population, it is understood that there are 5000 alleles in the population Since we are assuming that the population is in H-W equilibrium, then p2+ 2pq + q2 = 1, for FF, Ff & ff. Recessive genotype frequency = q2 = (ff)/(total pop) = 225/2500 = 0.09 = 9% of pop. Recessive allele frequency = q = (q2)1/2 = (0.09)1/2 = 0.3 = 30% 3 2/14/09 Dominant allele frequency = Homozygous dominant genotype frequency = p2 = (0.7)2 = 0.49 = 49% Heterozygous genotype frequency = p = 1 – q = 1 – 0.3 = 0.7 = 70% 2pq = 2 (0.7)(0.3) = 0.42 = 42% Number in the population: ff: 225 individuals (9%) FF: 49% of 2500 = 1225 Ff: 42% of 2500 = 1050 Do the population genotypes match the numbers predicted by H-W, given the allele frequencies? Example: If 4% of a population (4/100) has sicklecell anemia (aa), 60% (60/100) are heterozygous for sickle-cells (Aa), and 36% (36/100) do not have the sickle-cell allele (AA). Find the allele frequencies: 1. • q2 = 0.04, so q = (.04)1/2 = 0.2 • p = 1 – q = 1 – 0.2 = 0.8 4 2/14/09 Then, predict the genotype frequencies under H-W: 2. • • • aa: q2 = 0.04 Aa: 2pq = 0.32 AA: p2 = 0.64 Finally, comparing to the actual numbers, we have 40% aa, 60% Aa, and 36% AA in the actual population. 3. • Therefore the population is NOT in H-W equilibrium. What might cause this? Where might this population be located? 5
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