Mitochondrial DNA sequence diversity in Russians

The article presents the results of the first regular study of Russian popu lations by sequencing the control region of mitochondrial DNA (mtDNA), The sequenced region is the most variable on mtDNA molecule and is commonly use d for population and evolutionary studies. Russians form one of the largest ethnic groups (more than 129 million). However, their genetic diversity ha d only been characterized with RFLP and biochemical markers, although there are already established mtDNA sequence databases for many ethnic groups of the world. We have obtained sequence data from 103 individuals living in t hree Russian regions: Kostroma, Kursk, and Rjazan, The sequenced fragment a nalyzed is 360 bp in length (positions from 16024 to 16383), Fifty nine nuc leotide positions have been found polymorphic in Russians, among those were 57 transitions and two transversions, One individual is found having two i nsertions of two cytosines between positions 16184 and 16193, Among 64 diff erent mitotypes identified in the study 52 were unique in these samples. Th e index of genetic diversity (Nei, 1987) for Russians is 0.96. This value i s within the established range for European populations (0.93 to 0.98), Gen etic distances calculated from our data show that Russians form a cluster w ith Germans, Bulgarians, Swedes, Estonians, and Volgo-Finns are more distan t from Karelians and Finns, and much more differ from Turks and especially Mongolians, (C) 1999 Federation of European Biochemical Societies.