[Features of the Udmurt mitochondrial gene pool in relation to tribal structure].

We present novel data on mitochondrial DNA polymorphism in the Udmurt population, which represents a Finno-Ugric ethnos residing in the Volga-Ural region. Our analysis of the Udmurt mtDNA polymorphisms have shown that neighboring ethnoses had almost no effecton formation of the Udmurtian intraethnic diversity. These results strongly indicate that genetic differences in the Udmurtian population are determined by their tribal structure rather than their geographic location.

[Genetic diversity of Besermyan based on mitochondrial DNA polymorphism].

The first data on mtDNA diversity in Besermyan, the Finno-Ugric ethnic group, related to Udmurts, are presented. An analysis of mtDNA polymorphism showed that Besermyan stood out from the other populations of Volga-Ural region due to the presence of a large proportion of the mongoloid component. The sample of Besermyan contained East Eurasian haplotypes not detected in ethnic populations of the Volga region and Cisurals, while they were detected in South Siberia, mostly among Turkic-speaking populations. An analysis of the genetic distances between Besermyan and the neighboring ethnic groups showed that Besermyan were distant from other populations of Volga-Ural region and close to Turkic-speaking populations of South Siberia. Thus, the data obtained favor the suggestion on the mixed Udmurto-Turkic origin of Besermyan.

[Some features of mitochondrial gene pool of Maeotis in light of their relation to Cis-Asov nomads].

New data on mitochondrial gene pool polymorphism of Maeotis (1st-3rd centuries CE) in the light of their relation with Sarmatian nomads are presented. Maeotis are more genetically various, compared to Sarmatians; both the age of Maeotian gene pool and their close interactions with neighboring tribes can be reasons for this. The study of relationships of Maeotis and Sarmatians suggests an intensive gene interchange between them, which influences significantly on the formation of the Maeotian gene pool.

[Mitochondrial DNA variability in populations and ethnic groups of Tatars of the Tobol-Irtysh basin].

The data on mitochondrial DNA diversity in seven local populations (villages) and four territorial groups of Tatars of the Tobol-Irtysh basin are presented. In the Turkic-speaking populations from the Tobol and Irtysh river basins, high levels of intergroup and interpopulation mtDNA variation were observed. It was demonstrated that genetic diversity of the territorial groups of Tatars of the Tobol-Irtysh basin resulted from various interethnic relationships and different ethnic components integrated into these groups.

[Mitochondrial DNA diversity in Kazym Khanty].

New data on mitochondrial DNA polymorphism in the representatives of Kazym territorial group of Northern Khanty are presented. MtDNA diversity observed in Kazym Khanty was compared with that in Khanty from Shuryshkarskii raion of Yamalo-Nenets Autonomous Okrug.

[Mitochondrial DNA diversity in Siberian Tatars of the Tobol-Irtysh basin].

Data on the variation of the nucleotide sequence of hypervariable segment I (HVSI) and restriction fragment length polymorphism (RFLP) of the coding region of mitochondrial DNA (mtDNA) have been used to characterize the mitochondrial gene pool of Siberian Tatars of the Tobol-Irtysh basin (N = 218), one of three geographic/linguistic groups of Siberian Tatars. The gene pool of Siberian Tatars has been shown to contain both Asian and European mtDNA lineages at a ratio of 1 : 1.5. The mtDNA diversity of Siberian Tatars is substantially higher than that of other Turkic-speaking populations of North and Central Asia. The position of the mitochondrial gene pool of Tatars of the Tobol-Irtysh basin in the genetic space of northern Eurasia populations has been determined.

[Mitochondrial DNA polymorphism in Russian population form five oblasts of the European part of Russia].

New data on mitochondrial DNA polymorphism among Russian population from five oblasts, located within the main ethnic area of Russians, specifically, Ryazan' oblast, Ivanovo oblast, Vologda oblast, Orel oblast, and Tambov oblast (N = 177) are presented. RFLP analysis of the mtDNA coding region showed that most of the mtDNA diversity in the populations examined could be described by main European haplogroups H, U, T, J, K, I, V, W, and X. Haplogroup frequency distribution patterns in the populations of interest were analyzed in comparison with the European and Uralic populations. Based on the haplogroup frequencies, the indices of intraethnic population diversity, Wright's F(st) statistics, and the values of squared deviation from the mean, as well as genetic distances between Russians and European and Uralic populations were estimated. Analysis of these indices along with the anthropological data provided identification of a number of regional groups within the populations examined, which could either result from the interaction of ancient Slavs with different non-Slavic tribes, or could be caused by the ethnic heterogeneity of the ancient Slavs themselves.

Genetic evidence concerning the origins of South and North Ossetians.

Ossetians are a unique group in the Caucasus, in that they are the only ethnic group found on both the north and south slopes of the Caucasus, and moreover they speak an Indo-European language in contrast to their Caucasian-speaking neighbours. We analyzed mtDNA HV1 sequences, Y chromosome binary genetic markers, and Y chromosome short tandem repeat (Y-STR) variability in three North Ossetian groups and compared these data to published data for two additional North Ossetian groups and for South Ossetians. The mtDNA data suggest a common origin for North and South Ossetians, whereas the Y-haplogroup data indicate that North Ossetians are more similar to other North Caucasian groups, and South Ossetians are more similar to other South Caucasian groups, than to each other. Also, with respect to mtDNA, Ossetians are significantly more similar to Iranian groups than to Caucasian groups. We suggest that a common origin of Ossetians from Iran, followed by subsequent male-mediated migrations from their Caucasian neighbours, is the most likely explanation for these results. Thus, genetic studies of such complex and multiple migrations as the Ossetians can provide additional insights into the circumstances surrounding such migrations.

Mitochondrial DNA and Y-chromosome variation in the caucasus.

We have analyzed mtDNA HVI sequences and Y chromosome haplogroups based on 11 binary markers in 371 individuals, from 11 populations in the Caucasus and the neighbouring countries of Turkey and Iran. Y chromosome haplogroup diversity in the Caucasus was almost as high as in Central Asia and the Near East, and significantly higher than in Europe. More than 27% of the variance in Y-haplogroups can be attributed to differences between populations, whereas mtDNA showed much lower heterogeneity between populations (less then 5%), suggesting a strong influence of patrilocal social structure. Several groups from the highland region of the Caucasus exhibited low diversity and high differentiation for either or both genetic systems, reflecting enhanced genetic drift in these small, isolated populations. Overall, the Caucasus groups showed greater similarity with West Asian than with European groups for both genetic systems, although this similarity was much more pronounced for the Y chromosome than for mtDNA, suggesting that male-mediated migrations from West Asia have influenced the genetic structure of Caucasus populations.

Tracing European founder lineages in the Near Eastern mtDNA pool.

Founder analysis is a method for analysis of nonrecombining DNA sequence data, with the aim of identification and dating of migrations into new territory. The method picks out founder sequence types in potential source populations and dates lineage clusters deriving from them in the settlement zone of interest. Here, using mtDNA, we apply the approach to the colonization of Europe, to estimate the proportion of modern lineages whose ancestors arrived during each major phase of settlement. To estimate the Palaeolithic and Neolithic contributions to European mtDNA diversity more accurately than was previously achievable, we have now extended the Near Eastern, European, and northern-Caucasus databases to 1,234, 2, 804, and 208 samples, respectively. Both back-migration into the source population and recurrent mutation in the source and derived populations represent major obstacles to this approach. We have developed phylogenetic criteria to take account of both these factors, and we suggest a way to account for multiple dispersals of common sequence types. We conclude that (i) there has been substantial back-migration into the Near East, (ii) the majority of extant mtDNA lineages entered Europe in several waves during the Upper Palaeolithic, (iii) there was a founder effect or bottleneck associated with the Last Glacial Maximum, 20,000 years ago, from which derives the largest fraction of surviving lineages, and (iv) the immigrant Neolithic component is likely to comprise less than one-quarter of the mtDNA pool of modern Europeans.

Siberian population of the New Stone Age: mtDNA haplotype diversity in the ancient population from the Ust'-Ida I burial ground, dated 4020-3210 BC by 14C.

On the basis of analysis of mtDNA from skeletal remains, dated by 14C 4020-3210 BC, from the Ust'-Ida I Neolithic burial ground in Cis-Baikal area of Siberia, we obtained genetic characteristics of the ancient Mongoloid population. Using the 7 restriction enzymes for the analysis of site's polymorphism in 16,106-16,545 region of mtDNA, we studied the structure of the most frequent DNA haplotypes, and estimated the intrapopulational nucleotide diversity of the Neolithic population. Comparison of the Neolithic and modern indigeneous populations from Siberia, Mongolia and Ural showed, that the ancient Siberian population is one of the ancestors of the modern population of Siberia. From genetic distance, in the assumption of constant nucleotide substitution rate, we estimated the divergence time between the Neolithic and the modern Siberian population. This divergence time (5572 years ago) is conformed to the age of skeletal remains (5542-5652 years). With use of the 14C dates of the skeletal remains, nucleotide substitution rate in mtDNA was estimated as 1% sequence divergence for 8938-9115 years.

[Molecular genetic characteristics of the neolithic population of the Baikal region: RFLP analysis of the ancient mitochondrial DNA from osseous remains found in the Ust-Ida I burial ground]. / Molekuliarno-geneticheskaia kharakteristika neoliticheskoi populiatsii Pribaikal'ia. Analiz PDRF drevnei mtDNK iz ostankov v Mogil'nike ust'-Ida I.

Nineteen mtDNA samples from osseous remains found in the Ust-Ida I burial ground (middle Angara River) were analyzed. An ancient population dated back to 4020-3210 B.C. by radiocarbon (14C) analysis and archeologically assigned to the Neolithic Isakovo culture of the Baikal region was described in terms of molecular genetics. Data on restriction-site polymorphisms in fragment 16,106-16,545 of the mtDNA D-loop were obtained for seven restriction endonucleases. On the basis of these data, the mitotypic structure and nucleotide diversity of the ancient population were determined. The molecular genetic characteristics of the Neolithic population were compared to the modern populations of Siberia, Mongolia, and Urals. The data obtained indicate that the studied Baikal Neolithic population was ancestral for the modern indigenous Siberian population. The time of divergence of the three regional populations (5572 years ago) was estimated from the genetic distances between the Neolithic and modern Siberian populations, assuming that the average rate of nucleotide substitution was constant. This estimation agrees with the results of the radiocarbon dating (5542-5652 years ago). The fact that the studied samples were 14C-dated allowed the rate of nucleotide substitution in the studied region of mtDNA D-loop to be directly determined.

[A computer-assisted approach to the study of nucleic acid polymorphism]. / Komp'iuternyi podkhod k izucheniiu polimorfizma nukleinovykh kislot.

A computer software package has been created that assists studying restriction fragment length polymorphism (RFLP). The software simulates and analyzes the results of amplification by means of polymerase chain reaction (PCR) followed by restriction of amplification products, as well as the results of nucleic acid electrophoresis.

[Gene pool of residents of northeastern Eurasia in light of data on polymorphism of mitochondrial DNA. I. New data on polymorphism of restriction sites of the D-loop of mtDNA in aboriginal populations of the Caucasus and Siberia]. / Genofond naseleniia severo-vostochnoi evrazii v svete dannykh o polimorfizm mitokhondrial'nom DNA. I. Novye dannye o polimorfizme saitov restriktsii D-petli mtDNK v korennom naselenii Kavkaza i Sibiri.

New data about eleven polymorphic sites of restriction in the D-loop of mtDNA revealed with the Ava II, BamH I, EcoR V, Hae III, Kpn I, Rsa I, and Sau3A I restriction enzymes in native populations of the Caucasus (N = 40) and Siberia (N = 44) are presented. A comparison of these groups with each other and with common data for western and eastern Europe as well as for central and eastern Asia reveals a large similarity of all the population groups of Eurasia in respect to the frequency of each polymorphic site separately. The interpopulation differentiation of frequency of polymorphic restriction sites in Eurasia is low and identical at such different hierarchical levels of population structure as ethnic group and extended regional population group. An analysis of differences between sites in the frequency of the presence of restriction sites for BamH I, EcoR V, Hae III, and Sau3A I and the absence of sites for Ava II, Kpn I, and Rsa I at definite loci of the nucleotide chain allowed determination of the region of equilibrium between direct, site-generating, and reverse mutations to be 0.43q. Among eleven polymorphic restriction sites analyzed here, only polymorphism in the Hae III site at the position 16,517 in the population of Eurasia was characterized with frequencies close to equilibrium that determined the extremely large evolutionary age of this polymorphism.