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NovAbstract:
A model of selection involving two selectively equivalent classes of alleles at a locus is considered. One class consists of normal alleles A1, A2, A3,. . .; the other class consists of detrimental alleles a1, a2, a3, . . . . Mutation within and between allelic classes can occur without restriction, but selection operates in such a way as to maintain an approximately constant overall frequency of A-type and a-type alleles is derived, and it is shown that the distribution of allele frequencies in a sample of detrimental alleles depends on the forward (A to a) mutation rate but not on the selection coefficient, degree of dominance, or mutation rate among a-type alleles. Recurrent mutation therefore generates allelic multiplicity among detrimental alleles, and this is discussed in the context of clinical heterogeneity in simple Mendelian disorders.
Notes:
Hartl, D LCampbell, R BengGM-24886/GM/NIGMS NIH HHS/GM-30351/GM/NIGMS NIH HHS/Research Support, U.S. Gov't, Non-P.H.S.Research Support, U.S. Gov't, P.H.S.1982/11/01Am J Hum Genet. 1982 Nov;34(6):866-73.