Mitochondrial DNA sequence diversity in Russians.

Orekhov V, Poltoraus A, Zhivotovsky LA, Spitsyn V, Ivanov P, Yankovsky N.

Vavilov Institute of General Genetics, Moscow, Russia.

The article presents the results of the first regular study of Russian populations by sequencing the control region of mitochondrial DNA (mtDNA). The sequenced region is the most variable on mtDNA molecule and is commonly used for population and evolutionary studies. Russians form one of the largest ethnic groups (more than 129 million). However, their genetic diversity had 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 three Russian regions: Kostroma, Kursk, and Rjazan. The sequenced fragment analyzed is 360 bp in length (positions from 16024 to 16383). Fifty nine nucleotide positions have been found polymorphic in Russians, among those were 57 transitions and two transversions. One individual is found having two insertions of two cytosines between positions 16184 and 16193. Among 64 different mitotypes identified in the study 52 were unique in these samples. The index of genetic diversity (Nei, 1987) for Russians is 0.96. This value is within the established range for European populations (0.93 to 0.98). Genetic distances calculated from our data show that Russians form a cluster with Germans, Bulgarians, Swedes, Estonians, and Volgo-Finns are more distant from Karelians and Finns, and much more differ from Turks and especially Mongolians.

According to the above mtDNA diversity analysis, Russians
of the Eastern-European plain are close to the European
ethnic groups; the same conclusion was obtained by using
biochemical markers [25,26]. Additionally, our analysis shows
some in£uence of Finno-Ugric ethnic group on the Russian
mitochondrial pool. Our data also show that Russian populations
are heterogeneous