Abstracts

Human Genome Diversity

The present study is initiated to the mitochondrial DNA (mtDNA) variability analysis in populations of Russians and Ukrainians. Mitochondrial genome, inherited by the maternal line and without recombinations, belong to the most variable genetic systems of cell. However, genetic homogeneity of European populations, showing the similar mitochondrial gene pools structures, remains to be the main limitation to trace the utility of mtDNA markers for differentiation of Slavonic populations, including Eastern Slavs. The investigations of mtDNA restriction polymorphisms in five Russian populations (originating from Magadan, Nizhnij Novgorod, Orel, Belgorod and Krasnodar regions) as well as in Ukrainian population have revealed that Eastern Slavs, along with other European populations, are characterized by similar frequencies of the following mtDNA haplogroups - H, V, pre-V, HV*, J, T, U, K, I, W, X. The haplogroups H, V, J, T and U appear to be the most frequent among Russians and Ukrainians. The analysis of distribution of the haplogroups frequencies in Eastern Slavonic populations has shown the lack of significant between-population differences. However, the comparative phylogenetic analysis of the hypervariable segment 1 (HVS1) sequences in Russians, Ukrainians and other populations of Central and Eastern Europe reveals a considerable heterogeneity of Eastern Slavonic populations - they cluster both with Southern and Northern populations of Europe. These data are in agreement with anthropological data suggesting that the origin of different Slavonic ethnoregional groups was accompanied by metisation and assimilation processes with autochthonous pre-Slavonic populations. Meanwhile, the analysis of distribution of phylogenetically related HVS1 lineages between populations of Europe has shown that Slavonic groups are characterized by commonality of their origin and, among them, Western Slavs occupy the central position. It was found that Western Slavs share the maximal number of phylogenetically related mitochondrial lineages with Eastern Slavs (Russians) and Southern Slavs, whereas the latter groups does not have a significant lineages sharing. This may be explained by independent migrations of Slavs from their putative Central European homeland to the South and East of Europe.

This work was supported by grants of RFBR (00-06-80448) and Frontiers in Genetics (99-04-30).

Note. Abstracts are published in author's edition

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