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Mitochondrial DNA sequence diversity in Russians.

V Orekhov¹, A Poltoraus, L A Zhivotovsky

¹Vavilov Institute of General Genetics, Moscow, Russia.

|March 9, 1999

Summary

This study sequenced mitochondrial DNA (mtDNA) control regions in Russian populations, revealing high genetic diversity comparable to other European groups. The findings establish a baseline for future population and evolutionary research on Russians.

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Area of Science:

Genetics
Population Genetics
Evolutionary Biology

Background:

Russian populations, comprising over 129 million individuals, lacked comprehensive mitochondrial DNA (mtDNA) sequence data.
Previous genetic diversity studies relied on RFLP and biochemical markers, unlike many global ethnic groups with established mtDNA sequence databases.

Purpose of the Study:

To conduct the first regular study of Russian populations using mtDNA control region sequencing.
To characterize the genetic diversity of Russians and compare it with other European and global populations.

Main Methods:

Sequencing of the hypervariable control region (360 bp, positions 16024-16383) of mtDNA from 103 individuals across three Russian regions.
Analysis of nucleotide polymorphisms, including transitions, transversions, and insertions.

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Calculation of genetic diversity index and genetic distances.

Main Results:

Fifty-nine polymorphic nucleotide positions were identified, with 57 transitions and two transversions.
64 distinct mitotypes were found, 52 of which were unique to this sample.
The genetic diversity index for Russians was calculated at 0.96, aligning with the range for European populations (0.93-0.98).

Conclusions:

Russian populations exhibit significant genetic diversity within their mtDNA control region.
Genetic distance analysis places Russians within a cluster of European populations, distinct from Turkic and Mongolian groups.
This study provides crucial mtDNA sequence data for Russian populations, essential for future population and evolutionary analyses.