Testing the neutral mutation hypothesis by distribution of single locus heterozygosity

Abstract

ONE of the most controversial issues in population genetics at present is whether the widespread protein variation in natural populations is maintained by some form of balancing selection1–3 or merely represents the drifting polymorphism of neutral or nearly neutral mutations4–6. By the neutral mutation hypothesis the level of genetic variability in an equilibrium population is determined by mutation rate, v, and effective population size, Ne. If we use the infinite allele model, in which new mutations are assumed to be always different from the pre-existing alleles in the population, the average heterozygosity per locus is given bywhereM = 4Nev (ref. 7).

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