01 requires of 09 x 10 4 11 x 10 4 s 09 mutation

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Unformatted text preview: deleterious allele* µ q = s * if recessive •  For telSMN, q persists at ~0.01 •  Requires µ of 0.9 x 10-4 µ = mutation rate s = selection intensity q = allele frequency (q2 is genotype frequency) *Wirth et al. 1997. Am. J. Human Genetics 61: 1102-1111. Mutation-Selection Balance! •  Mutations put deleterious alleles into the population" •  Selection acts to remove deleterious mutations" •  Mutation puts them back (deleterious alleles persist) "" equilibrium frequency of deleterious allele* µ q = s * if recessive •  For telSMN, q persists at ~0.01 •  Requires µ of 0.9 x 10-4 µ = 1.1 x 10-4 s = 0.9 µ = mutation rate s = selection intensity q = allele frequency (q2 is genotype frequency) *Wirth et al. 1997. Am. J. Human Genetics 61: 1102-1111. Mutation " new alleles " New variants " Gene flow " Evolution " influx of alleles " from other populations " (change in allele frequency) " Genetic drift " Change in frequency" of variants in " next generation" chance changes in allele frequencies "...
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