Moscow University

Ethnic genomics: analysis of genome polymorphism in the populations of Archangelsk region

Limborskaya S.A. (1), Verbenko D.A. (1), Khrunin A.V. (1), Slominsky P.A. (1), Bebyakova N. (2)

1) Institute of molecular genetics, Russian Academy of Sciences, Moscow; 2) Northern State Medical University, Arkhangelsk

Limborskaya S.A., e-mail:; Verbenko D.A., e-mail:; Khrunin A.V., e-mail:; Slominsky P.A., e-mail:; Bebyakova N.A, e-mail:


Introduction. The gene pool of populations in Russia was formed during the long-term contacts between ethnic groups, inhabiting areas with different climatic conditions, having the peculiar elements of culture and traditions. The investigation of basic gene pool characteristics is one of the aims of ethnic genomics. Variability of each of genomic regions is characterized by a historical pedigree line that has been formed under the environmental factors action. The aim of the present research was to study the gene pool structure of populations of Archangelsk region by using different types of DNA markers. Materials and methods. DNA samples collected in Russian populations from different parts of Archangelsk region during expeditions to Archangelsk in 1999-2010 years were tested. Only the individuals with no history of interethnic marriages down to two generations, and whose ancestors lived in the regions examined were included in the study. The informed consent was obtained from each individual. The polymorphisms of mitochondrial DNA (mtDNA), Y-chromosome as well as autosomal (nuclear) DNA polymorphisms were analyzed. mtDNA and Y-chromosomal markers were applied to test maternal and paternal historical lineages differently. Autosomal markers were explored to characterize gene pool of population as a whole. Different types of DNA markers – polymorphic mini- and microsatellites, insertion-deletion polymorphisms, single nucleotide polymorphisms, including their combinations (haplotypes) – were involved to study genetic diversity. Results and discussions. The analysis of mtDNA polymorphism showed that Russian populations form Archangelsk region bear quite a number of different maternal lineages, the most frequent – about 50% – being the so-called haplogroup H typical of most European peoples. Other haplogroups were also found and their frequencies were similar to those in European populations. Y chromosome polymorphisms not only showed similarity between Russian populations from Archangelsk region and other ethnic Russians but also revealed their specificity as they had substantially more Finno-Ugric component. Autosomal variability data also demonstrated the peculiarities that differed them from Russian populations of other regions. The results were inferred from both the analysis of polymorphism of single genes (GSTA1, GSTT1, TP53, DRD2) and chromosomal regions. Conclusions. Most of DNA markers reveal the specificity of gene pool of the Russian population of the Archangelsk region. The main part of the variability of the studied markers coincides to that of Eastern Slavic, but certain features suggest the presence of a component, typical for Finno-Ugric people. Different sites of the genome represent separate lines of evolutionary trajectories of gene pool of populations of Archangelsk region.


Archangelsk region, genome diversity, DNA polymorphism, minisatellites, microsatellites, single nucleotide polymorphism, haplotypes

Цит.: Limborskaya S.A., Verbenko D.A., Khrunin A.V., Slominsky P.A., Bebyakova N. Ethnic genomics: analysis of genome polymorphism in the populations of Archangelsk region // Moscow University Anthropology Bulletin (Vestnik Moskovskogo Universiteta. Seria XXIII. Antropologia), 2011; 3/2011; с. 100-119

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