BGEN 3020 Lecture Notes - Lecture 34: Allele Frequency, Cytokine Receptor, Genotype Frequency

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Objectives: hardy-weinberg equilibrium, examples of h-w and calculations, autosomal, x-linked, lethals, conditions of h-w, factors that alter equilibrium: non-random mating (stratification, assortative, consanguinity and inbreeding, selection and fitness. Examples: high frequency of tay-sachs in ashkenazi jewish populations, high frequency of cystic fibrosis among northern europeans, high frequency of huntington"s disease in lake maracaibo in venezuela. Ccr5/delccr5 = 134 delccr5/delccr5 = 7 frequency of wild-type ccr5 allele is: [(647x2) + 134] / 788x2 = 0. 906 homozygotes have 2 ccr5 alleles. 2pq = hetero = chance of being heterozygous q2 = homo q = chance of having 2 q alleles. Ccr5 example again: put our counted frequencies into hardy-weinberg, p=0. 906; q=0. 094; population of 788. Hardy-weinberg with 3 alleles: (p + q + r)2, multiple disease mutations may be grouped into one disease allele, e. g. could represent summed frequencies of all disease alleles.

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