Estimation of Allele Frequencies in Ethnically Heterogeneous Populations

Abstract

A method for reconstructing allele frequencies characteristic of an original ethnically homogeneous population before the start of migration processes is described. Information on both the ethnic group studied and offspring of interethnic marriages is used to estimate the allele frequencies. This makes it possible to increase the informativeness of the sample, which, in the case of ethnic heterogeneity, depends not only on allele frequencies and the total sample size, but also on the ethnic structure of the sample. The problem of estimating allele frequency in an ethnically heterogeneous sample has been solved analytically for diallelic loci. It has been demonstrated that, if offspring of interethnic marriages with the same degree of outbreeding is added to a sample of the ethnic group studied, the sample informativeness does not change. To utilize the information contained in the phenotypes of the offspring of interethnic marriages, representatives of the population from which migration occurs should be included into the sample. The size of the sample ensuring the preassigned accuracy of estimation is minimized at a certain ratio between the numbers of the offspring of interethnic marriages and the “immigrants.” To analyze polyallelic loci, a software package has been developed that allows estimating allele frequencies, determining the errors of these estimates, and planning the sample ensuring the preassigned accuracy of estimation. The package is available free at http://mga.bionet.nsc.ru/PopMixed/PopMixed.html.