Polymorphism of hypervariable segment I of mitochondrial DNA in three ethnic populations from the Volga-Ural region

A population genetic study of the polymorphism in the first hypervariable s egment (HVSI) of mitochondrial DNA control region was carried out for three ethnic populations of the Volga-Ural region, Bashkirs, Russians, and Komi- Permyaks. This analysis showed that most of the mtDNA HVSI haplotypes detec ted in the populations of Bashkirs, Russians and Komi-Permyaks contained th e combinations of nucleotide substitutions detected earlier in European, an d, to a lesser extent, Asian. These findings are consistent with historical , anthropological, and ethnographical data suggesting the presence of Europ ean and Mongoloid components of different geographical descent in the gene pool of the contemporary population of the Volga-Ural region. The data on t he genetic structure and the phylogenetic relationships between populations of the Volga-Ural region based on modern molecular genetic methods of mito chondrial genome investigation would be a substantial addition to the alrea dy existing information for some other regions of Europe and Asia. These da ta would provide more complete examination of the development of interethni c diversity of mitochondrial gene pools of contemporary ethnic populations with the purpose of reconstructing the genetic demographic processes that a ccompanied peopling of the Middle Ural and Volga region.