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Hardy-Weinberg Principle Hardy-Weinberg Principle        Hardy-Weinberg Principle – enables us to calculate and predict allelic and genotypic frequencies Allelic frequency – the frequency of an allele in a population Genotypic frequency – the frequency of a genotype in a population Hardy-Weinberg  We use p to represent the dominant allele, and q to represent the recessive allele  For allelic frequency: p + q = 1  So if the frequency of the dominant allele (p) is 0.75, then the frequency of the recessive allele (q) is…0.25 Hardy-Weinberg  For genotypic frequency: p2 + 2pq + q2 = 1  Where: p2 = frequency of homozygous dominant 2pq = frequency of heterozygous q2 = frequency of homozygous recessive Hardy-Weinberg  SO…for example, if we know the frequency of the homozygous recessive genotype (q2), we can find the frequency of the recessive allele [√(q2) = q]  THEN…since we know q, we can find p, then p2, then 2pq! Hardy-Weinberg  Hardy-Weinberg predicts that gene frequencies will remain the same from one generation to the next  However, certain conditions must be met Hardy-Weinberg – the frequencies of the alleles do not change and – as long as the mating is random, the genotypic frequencies will remain in the proportions p2 (frequency of AA), 2pq (frequency of Aa) and q2 (frequency of aa) where p is the frequency of A and q is the frequency of a – The sum of the genotypic frequencies should be: p2 + 2pq + q2 = 1 Hardy-Weinberg Assumptions      1) Large population 2) Random mating 3) No mutation 4) No migration (in or out of population) 5) No selective pressure Brachydactyly and evolutionary change  We know the gene for brachydactyl fingers is dominant to normal fingers  A man named Yule suggested that short-fingered people should become more common through time  Godfrey Hardy showed this inference was wrong  Wilhelm Weinberg derived the same solution to the problem independently The Hardy-Weinberg Law - the most important principle in population genetics   The law is divided into three parts: a set of assumptions and two major results – In an infinitely large, randomly mating population, free from mutation, migration and natural selection (note there are five assumptions here) The Hardy-Weinberg Law - the most important principle in population genetics  The incidence of albinism is remarkably common (0.0043 or 13 in every 3000 Hopis)  Assuming Hardy-Weinberg equilibrium, we can calculate q as the square root of 0.0043 = 0.066  p is therefore equal to 0.934  The frequency of heterozygotes in the population is 2pq = 0.123  In other words, 1 in 8 Hopis carries the gene for albinism!  Take-home Lesson: For a rare allele, heterozygotes can be relatively common Albinism in Hopi Native Americans  The incidence of albinism is remarkably common (0.0043 or 13 in every 3000 Hopis)  Assuming Hardy-Weinberg equilibrium, we can calculate q as the square root of 0.0043 = 0.066  p is therefore equal to 0.934  The frequency of heterozygotes in the population is 2pq = 0.123  In other words, 1 in 8 Hopis carries the gene for albinism!  Take-home Lesson: For a rare allele, heterozygotes can be relatively common Hardy Weinberg Problem I          Sickle Cell Anemia – SS = susceptible to malaria but no SCA – ss = non-susceptible but SCA  mortality – Ss = non-susceptible and no SCA What do we expect proportions of ss? Ss? • E.g. 4% ss - what are proportions of Ss – .04 = ss = q2  q = √.04 = .2 – p = 1 - q = 1 - .2 = .8 – Ss = 2pq = 2(.8)(.2) = .32 Hardy Weinberg Problem II       What would it take to increase Ss proportion to 50% (from 32%)? – Ss = 2pq = .5  pq = .25 – q = 1 - p  p (1-p) = .25  p = .5 – Which means aa goes to .25 from .04, over 6x Hardy Weinberg Problem III How many of you can roll your tongues? – A - Yes –B-N Hardy Weinberg Problem III        What is the percentage of heterozygous tongue-rollers? – Yes = p2 + 2pq – No = q2 – q = √No – p = 1- q – Heterozygous = 2pq