Analysis Of mtDNA Polymorphisms Research Articles

MtDNA variations in three main ethnic groups in Tuzla Canton of Bosnia and Herzegovina

This study was based on the analysis of mtDNA polymorphisms in three ethnic groups of Tuzla Canton of Bosnia and Herzegovina (Bosniaks, Croats and Serbs). The main aim of this study was to analyze the influences of the maternal gene flow on the genetic profile of ethnic groups. The analysis of mtDNA variation based on relevant restriction fragment length polymorphisms (RFLP) in combination with HVSI variations of the control region enabled the identification of the Western - Eurasian haplogroups (H, I, J, T, W, U, HV, HVO, K, V, X), African/Near East lineages N1a and Asian haplogroup M. Our data indicate a close gene similarity among maternal gene pools of the ethnic groups of Tuzla Canton as well as similar influence of the maternal gene flow on genetic structure of those populations. The presence of important maternal determinants of the Late Glacial expansion (U5a), postglacial re-colonisation of Europe from refugia of southwestern Europe (H, V, U5b1), central-eastern European Plain (U4), Italian Peninsula (U5b3) and Neolithic expansion (U3, N1a, J, T) was noted in the genetic structure of the ethnic groups in Tuzla Canton. Conclusions in our study are consistent with the results of previous studies based on the distribution of mtDNA haplogroups and Y - chromosome haplogroups in three main ethnic groups of modern Bosnia and Herzegovina, suggesting similar effects of the paternal and maternal gene flows on genetic structure of the three main ethnic groups of modern Bosnia and Herzegovina.

Polymorphism of Mitochondrial DNA in Population of Siberian Tatars from Barabinsk Forest Steppe

The analysis of mtDNA polymorphism was carried out in the population of Siberian Tatars from the Barabinsk forest steppe living on the territory of Novosibirsk oblast (N = 199). As a result of the analysis of HVS I and HVS II nucleotide sequence, 101 haplotypes that refer to 22 mtDNA haplogroups were detected. The population of Baraba Tatars is represented by both East Eurasian (38.7%) and West Eurasian mtDNA lines (61.3%). H, T, U5, and J haplogroups prevail among West Eurasian haplogroups; C, D, G, M, and A haplogroups prevail among East Eurasian ones. According to the index of genetic diversity, Tatars from the Barabinsk forest steppe (0.9141) are the closest to Kazakhs (0.9108), Bashkirs (0.9165), and Tobol-Irtysh Tatars (0.9104). The greatest statistically significant interpopulation differences (FST) were detected between all studied samples; the smallest interpopulation differences were detected between all Tatar samples, as well as between Tatars and Komi, Mansi, Udmurts, Kazakhs, Chuvashes, and Bashkirs. The haplogroup H is the most common in populations that we studied. In the present study, was registered the haplotype 16126–16294 with the frequency of 4% (T cluster) previously found only in Caucasians. High frequency of haplogroups U4, U5, and H in the gene pool of Baraba Tatars brings them together not only with Samoyeds but also with Finno-Ugric populations. The highest intrapopulation genetic diversity was detected in Tatars from the Barabinsk forest steppe, Tobol-Irtysh Tatars, Kazakhs, and Bashkirs. The presence of the haplogroup B in the mitochondrial DNA genetic pool of Siberian Tatars brings them together with Turks that came from regions of Altai and Central Kazakhstan and inhabited the Western Siberian forest steppe in the 6th–9th centuries. The haplogroup U7, which is typical of populations of Jordan, Kuwait, Iran, and Saudi Arabia, could also have entered the territory of residence of Siberian Tatars in the middle of second millennium BC, when Iranian-speaking tribes entered Siberia.

Genetic diversity of Besermyans inferred from mitochondrial DNA polymorphism

The first data are presented on mtDNA diversity in Besermyans, the Finno-Ugric ethnic group related to Udmurts. An analysis of mtDNA polymorphism showed that Besermyans 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 Besermyans 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 Besermyans and the neighboring ethnic groups showed that Besermyans 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 Besermyans.

Mitochondrial DNA Polymorphism in Populations of Aboriginal Residents of the Far East

An analysis of mtDNA polymorphism in eight populations of aboriginal residents (N = 519) of the Far East has been performed. The majority of haplogroups revealed in the examined groups were of East Eurasian origin. Haplogroup D was revealed in seven populations and its frequency varied from 2.8% in Koryaks to 28.3 and 28.9% in Nanaians and Evenks, respectively. Chukchi and Koryak populations, which belong to the same language family, exhibited haplogroup G, which has the same motive and indicates the genetic kinship of both populations. The presence of East Eurasian haplogroups A and D with a strong predominance of haplogroup A in Chukchi indicates the closer relationship of this population both with Asian and Canadian Eskimos and northern Atapasks on the other side of Bering Strait. The high level of genetic variability was revealed in populations belonging to the Tungus-Manjur group. The high frequency of east Eurasian haplogroups in Nanaians could result from close historical associations with Siberian Evenks.

Use of polymorphisms in the noncoding region of the human mitochondrial genome to identify potential contamination of human leukemia-lymphoma cell lines.

The availability of the complete sequence of human mitochondrial DNA (mtDNA) has proven extremely useful in phylogenetic studies, forensic science and the determination of chimerism after allogeneic stem cell transplantation. In this study, we could demonstrate that the analysis of mtDNA polymorphisms is a quick and reliable method to identify contamination of human hematopoietic cell lines. This assay is based on PCR-sequencing of three hypervariable segments of the control region of mtDNA (hypervariable region (HRV) 1, 2 and 3). All three regions contain a large number of single-base polymorphisms. mtDNA was isolated according to standard laboratory procedures and amplified by PCR. Subsequently products were sequenced and evaluated with a semiautomated DNA sequencer system. So far, 21 human leukemia-lymphoma (LL) cell lines and nine other human cell lines were screened for contamination by other cell lines applying this method. We conclude that analysis of mtDNA polymorphisms is a quick, reliable and inexpensive method to detect intra - and interspecies cross-contamination and for the authentication of human LL cell lines. In comparison to other methods (cytogenetics, fluorescence in situ hybridization or immunophenotyping), this technique is less laborious and time consuming.

Polymorphism of human mitochondrial DNA

To date, a large data set on the mitochondrial DNA (mtDNA) sequence variation in human populations has been accumulated. The use of direct sequencing of the main noncoding region of mtDNA along with the RFLP analysis provide performance of complex analysis of mtDNA polymorphism in human populations. This approach proved to be effective for obtaining molecular genetic portraits of the world populations, as well as for the elucidation of the human evolutionary history and past migrations.