Molecular Genetic Analysis of the DXS52Polymorphism in Populations of the Volga–Ural Region

The DXS52polymorphic locus mapping to the 5"-region of the blood-clotting factor VIII gene on the X chromosome was genotyped in seven Volga–Ural ethnic groups (Bashkirs, Tatars, Chuvashes, Maris, Mordovians, Udmurts, and Komis). A total of 47 different genotypes and 15 allelic variants of this locus were described. Substantial intra- and interpopulation heterogeneity of the ethnic groups studied in respect to frequency and distribution of the DXS52alleles and genotypes was demonstrated. The unimodal DXS52allele frequency distribution pattern with the peak at 1690 bp was typical to Mordovians and Komis. Chuvashes and Maris, as well as Udmurts, were characterized by bimodal frequency distribution patterns, with the peaks at 1690 and 670 bp, and 1690 and 1390 bp, respectively. Moreover, Bashkirs and Tatars displayed trimodal DXS52allele frequency distribution patterns with the peaks at 1690, 1390, and 670 bp. The DXS52allele frequency distribution patterns described in populations of the Volga– Ural region were found to be remarkably different from those established for the mixed Moscow population and the population of Western Europe. These data indicate that the DXS52locus is highly informative, and this polymorphic system can serve as a molecular marker for population genetic studies.