Distribution of nucleotide differences between two randomly chosen cistrons in a finite population

Abstract

Watterson's (1975) formula for the steady-state distribution of the number of nucleotide differences between two randomly chosen cistrons in a finite population has been extended to transient states. The rate for the mean of this distribution to approach its equilibrium value is 1/2N and independent of mutation rate, but that for the variance is dependent on mutation rate, where N denotes the effective population size. Numerical computations show that if the heterozygosity (i.e., the probability that two cistrons are different) is low, say of the order of 0.1 or less, the probability that two cistrons differ at two or more nucleotide sites is less than 10 percent of the heterozygosity, whereas this probability may be as high as 50 percent of the heterozygosity if the heterozygosity is 0.5. A simple estimate for the mean number (-d) of site differences between cistrons is d = h/(1 - h) where h is the heterozygosity. At equilibrium, the probability that two cistrons differ by more than one site is equal to h2, the square of heterozygosity.