On the distribution of allele frequencies in a diffusion model

Abstract

An expression is derived and values tabulated for the expected allele frequencies and their variances, arranged in decreasing order in a population, from the finite and infinite alleles diffusion model in Watterson (1976). The neutral model and also a model with heterozygote selection are considered. Some observed ABO blood group allele frequencies are compared with the tabulated expected frequencies in the neutral three allele model. This extends the results of Watterson and Guess (1977) who tabulate the expected value of the most common allele. One test of neutrality previously advocated is to consider the distribution of F, the population homozygosity, conditional on G, the product of allele frequencies. However it is shown here that for a large number of alleles, F and G are asymptotically independent, the test would not be a good one in this case. A limit theorem is derived for the distribution of allele frequencies in the neutral model when the mutation rate is large. In this case F is shown to be asymptotically normal. An inequality is derived for the probability that the oldest allele in a population is amongst the r most frequent types. An inequality is also found for the probability that a sample will only contain representatives of the r most frequent allele types in the population.