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Chunk #15 — Model — Gene Frequency Distributions

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Data and theory point to mainly additive genetic variance for complex traits.
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Genetic variance components depend on the mean value of each genotype and the allele frequencies at the genes affecting the trait [3],[4],[17]. Unfortunately the allele frequencies at most genes affecting complex traits are not known, but the distribution of allele frequencies can be predicted under a range of assumptions. This distribution depends on the magnitude of the evolutionary forces that create and maintain variance, including mutation, selection, drift and migration. As the effects on fitness of genes at many of the loci influencing most quantitative traits are likely to be small, we can invoke theory for neutral alleles to serve as a reference point. An important such reference is the frequency distribution under a balance between mutation and random genetic drift due to finite population size in the absence of selection. If mutations are rare, the distribution of the frequency (p) of the mutant allele is f(p)∝1/p, i.e. approximately L-shaped [2],[35],[36], with the high frequency at the tail being due to mutations arising recently. The allele which increases the value of the trait may be the mutant or ancestral allele,