Properties of a neutral allele model with intragenic recombination

Abstract

An infinite-site neutral allele model with crossing-over possible at any of an infinite number of sites is studied. A formula for the variance of the number of segregating sites in a sample of gametes is obtained. An approximate expression for the expected homozygosity is also derived. Simulation results are presented to indicate the accuracy of the approximations. The results concerning the number of segregating sites and the expected homozygosity indicate that a two-locus model and the infinite-site model behave similarly for 4 Nu ⩽ 2 and r ⩽ 5 u, where N is the population size, u is the neutral mutation rate, and r is the recombination rate. Simulations of a two-locus model and a four-locus model were also carried out to determine the effect of intragenic recombination on the homozygosity test of Watterson ( Genetics 85, 789–814; 88, 405–417) and on the number of unique alleles in a sample. The results indicate that for 4 Nu ⩽ 2 and r ⩽ 10 u, the effect of recombination is quite small.