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Am J Hum Genet. Nov 1982; 34(6): 866–873.
PMCID: PMC1685710

Allele multiplicity in simple Mendelian disorders.

Abstract

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • KIMURA M, CROW JF. THE NUMBER OF ALLELES THAT CAN BE MAINTAINED IN A FINITE POPULATION. Genetics. 1964 Apr;49:725–738. [PMC free article] [PubMed]
  • Ewens WJ. The sampling theory of selectively neutral alleles. Theor Popul Biol. 1972 Mar;3(1):87–112. [PubMed]
  • Watterson GA. Heterosis or neutrality? Genetics. 1977 Apr;85(4):789–814. [PMC free article] [PubMed]
  • Harris H. Common and rare alleles. Sci Prog. 1974 Winter;61(244):495–514. [PubMed]

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