Estimation of mutation rates from the number of rare alleles in a sample

Abstract

To estimate the mutation rate from rare electrophoretic variants, a revised estimating equation is derived that takes into account the sampling distribution of the observed number of rare alleles in a sample drawn from the population. A check of the approximations used here suggests that the derived estimating equation is superior to the currently available one that is based on the expected number of rare alleles in the population. The new method is illustrated with a collation of electrophoretic data from literature. It is shown that the assumptions made in the theoretical treatment do not affect the estimate, per se, when the observed number of rare alleles is chosen as a statistic for estimating the mutation rates.

SNPSTRs: Empirically Derived, Rapidly Typed, Autosomal Haplotypes for Inference of Population History and Mutational Processes

“…Such estimation methods may underestimate the frequency of rare haplotypes (Tishkoff et al 2000a). As is true for rare alleles, however, rare haplotypes are likely to be particularly informative regarding gene flow between populations (Barton and Slatkin 1986) and mutation rates (Chakraborty 1981). Given the extensive number of STRs discovered in the genomes of a wide array of species during recent years, numerous potential SNPSTR systems exist.…”