mtDNA of Russians and Belorussians

mtDNA of Russians and Belorussians

Human Biology 75.5 (2003) 647-660
Mitochondrial DNA Variations in Russian and Belorussian Populations
Olga Belyaeva et al.
Abstract
The sequence of the first hypervariable segment (HVS-I) of mitochondrial DNA (mtDNA) was determined in 251 individuals from three eastern Slavonic populations, two Russian and one Belorussian. Within HVS-I, 78 polymorphic positions were revealed. Within-population diversity of HVS-I varies slightly among three samples; its estimates do not differ strongly from those for European populations. Haplotype diversity for three populations calculated in this study is 0.949; mean pairwise differences estimate is 3.59. To assign mtDNA sequences to major phylogenetic clusters, haplogroup-specific restriction polymorphisms were selectively typed in most samples. The haplogroup distribution in the total Eastern Slavonic sample is similar to that reported for the European sample. However, the separate consideration of three Slavonic samples reveals the complicated structure of the mitochondrial gene pool in the Eastern European area. Data of this study support the proposed model of the origin of modern Eastern Slavs, which implies the admixture of ancient Slavonic tribes with pre-Slavonic populations of Eastern Europe. These data should contribute to general studies of mitochondrial DNA variations in Europe.
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The presence of the U5b1 subcluster in the northern Russian population should also be noted. U5b1 sequences in Russians were also reported by Malyarchuk et al. (2002). This subcluster was described as specific for the Saami population (Lahermo et al. 1996). Its presence in the Russian (Oshevensk) sample seems to reflect an admixture of a Finno-Ugric component, but it is unclear how old this admixture could be. All individuals included in our sample were characterized as ethnically Russian, and inhabited the area where the sample was collected for at least three maternal generations. Currently, due to geographical and sociological peculiarities, the Russian population of the Oshevensk settlement can be considered an isolate. The southern part of the Arkhangelsk region, where the Oshevensk settlement is situated, does not have immediate contact with Saami populations. So, a recent admixture seems to be less probable than an earlier admixture during the peopling of northern areas by Slavonic groups.
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In comparison to frequencies of cluster M in Belorussians and the northern Russian population, the frequency of cluster M in Russians (Bashkiria) is notably but not dramatically increased (five sequences). Although we collected samples from individuals who are ethnically Russian for at least three generations, we cannot exclude the possibility of some admixture with neighboring Asian populations characterized by high frequencies of the cluster M.
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Conclusions. As follows from the above discussion, three eastern Slav samples considered in total demonstrate mtDNA variations that are very close to variations found in the European population as a whole. MtDNA haplotypes are similar to those found in Western and Central European populations. Nevertheless, the comparison of Slavonic samples of different ethnic and geographic origins reveals the complicated structure of the mitochondrial gene pool in this area. This structure could reflect traces of female admixture between Slavonic and pre-Slavonic groups—in particular, Finno-Ugric tribes—during a colonization of northern Eastern Europe by Slavs. In this sense our data are in agreement with those from previous studies of Slavonic mtDNA (Malyarchuk and Derenko 2001) and a hybridization theory of the origin of Eastern Slavs (Alekseeva 1973), which imply their central European origin and subsequent admixture and assimilation of pre-Slavonic populations of Eastern Europe. This study also revealed no or low Mongoloid admixture in the mitochondrial gene pool of Eastern Slavs. However, the analysis of maternally inherited mtDNA could not effectively reveal the influence of Mongoloid migrations, since they included mostly male individuals. Haplogroup distribution in Belorussians and northern Russians has more similarity to that in northern European populations than in eastern Russian populations. The Russian (Bashkiria) population differs from the two other samples in the representation of several clusters, namely, HV, V, K, T. Besides the local admixture and assimilation of pre-Slavonic groups, this difference could support an existing opinion that Russian migrants of different geographic origin were involved in the processes of colonizing the northern and eastern parts of the Russian Plain. More detailed studies of Eastern European mtDNA variations, complemented by analysis of Y-chromosome loci, will allow revelation of some tendencies, which could reflect the main aspects of European gene pool formation.
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