[Molecular genetic differentiation of ethnic populations in Southern and Eastern Siberia based on mitochondrial DNA polymorphism]. / Molekuliarno-geneticheskaia differentsiatsiia étnicheskikh grupp Iuzhnoi i Vostochnoi Sibiri po dannym o polimorfizme mitokhondrial'noi DNK.

Using the data on mitochondrial DNA (mtDNA) polymorphism, genetic structures of the ethnic groups inhabiting South and East Siberia, including Altaians, Buryats, Tuvinians, Todjins, Tofalars, Yakuts, and Evenks were described. Mitochondrial gene pools of the populations examined were characterized by different ratios between Mongoloid (M*, C, D, E/G, G, A, B, and F) and Caucasoid (H, HV, I, J, K, T, U, and X) mtDNA lineages. All the populations studied carried a marked Mongoloid component, maximum frequency of which was observed in Evenks (92.4%) and Buryats (90.1%). Maximum frequencies of Caucasoid mtDNA lineages were detected in Tofalars (20.7%) and Yakuts (14.5%). Statistically significant interpopulation differences regarding the frequencies of mtDNA haplogroups were observed between all populations examined, excluding the pairs of Evenks-Yakuts, Evenks-Tuvinians, and Tuvinians-Todjins. Differentiation of the ethnic groups inhabiting South and East Siberia, as well as Central and Middle Asia, is discussed based on genetic, linguistic, and anthropological data.

[Polymorphism of the Y-chromosome diallelic loci in the ethnic populations of the Altai-Sayan region]. / Polimorfizm diallel'nykh lokusov Y-khromosomy y korennogo naseleniia Altae-Saianskogo nagor'ia.

Using the data on five biallellic Y-chromosome loci (DYS199, 92R7, SRY1532, RBF5 and DYS287) polymorphism, genetic structures of the five Turkic-speaking ethnic groups of the Altai-Sayan highland (Tuvinians, Sojots, Shorians, Khakassians, and Southern Altaians (Altai-Kizhi), were described. The gene pools of the populations examined were characterized by the presence of pronounced paleo-Caucasoid component (92R7-T-lineages). The frequency of this component increased westward, reaching more than 70% in Shorians and Southern Altaians. Haplotype TAT-C (RBF5 locus) was observed in all populations, except Shorians, with the frequencies varying from 5.4% in Altai-Kizhi to 18.8% in Khakassians. The Alu-insertion in the DYS287 locus was revealed only in the Altaian sample with the frequency of 3.3%. It was established that the Altai-Sayan populations studied split into two statistically significantly different groups. One of the groups was represented by Tuvinians, Sojots, and Khakassians, while another one was comprised of Shorians and Altaians.

[Genetic markers of occupational susceptibility to fluorosis]. / Nekotorye geneticheskie markery podverzhennosti professional'nomu fliuorozu.

To determine markers showing propensity to occupational fluorosis, the authors studied prevalence of ABO, Rh, MN, ABH and Lewis phenotypes, systemic rhesus haplotypes in 229 workers engaged into aluminum production. Propensity to occupational fluorosis was marked by P (+), O (ABO) phenotypes. P (-) phenotype appeared to be a marker of resistance to fluorides exposure. The results obtained could be useful to forecast probability of fluorosis and to better this disease prevention.

[Hereditary polymorphism features in patients with silicosis associated with chronic bronchitis]. / Osobennosti nasledstvennogo polimorfizma u bol'nykh silikozom s soputstvuiushchim khronicheskim bronkhitom.

Chronic bronchitis frequently accompanies silicosis in metallurgy workers. Association of the two diseases significantly lowers life quality and disables the patients. Prophylactic measures for the diseases are elimination of the etiologic factors and detection of genetic markers for propensity and insusceptibility to silicosis and chronic bronchitis. Phenotypes of Lewis a-b- system, of Hp2-1 haptoglobin and of group-specific component Gc2-2 could be risk factors for chronic bronchitis in silicosis patients. Those of Lewis a-b+ system, of Hp2-2 haptoglobin and group-specific component Gc1-2 are resistant to chronic bronchitis on silicosis background.

[Structure of the gene pool of ethnic groups from the Altai-Sayan region from data on mitochondrial polymorphism]. / Struktura genofondov étnicheskikh grupp Altae-Saianskogo nagor'ia po dannym o polimorfizme mitokhondrial'noi DNK.

Using the data on mitochondrial DNA (mtDNA) polymorphism, genetic structures of the four Turkic-speaking ethnic groups of Altai-Sayan highlands, Southern Altaians (Altai-Kizhi), Khakassians, Shorians, and Sojots, were described. Mitochondrial gene pools of the populations examined were characterized by different ratios between Mongoloid (M*, C, D, E, G, A, B, and F) and Caucasoid (H, U, T, J, and K) mtDNA lineages. All the populations studied had a strongly pronounced Mongoloid component, the frequency of which was 88.2% in Sojots, 75.9% in Khakassians, 67.4% in Altaians, and 64.3% in Shorians. Maximum frequency of the Caucasoid component (35.7%) was observed in Shorians. Phylogenetic and statistical analyses of the mtDNA group frequency distribution patterns in the gene pools of the ethnic populations of Altai-Sayan highlands and the adjacent territories showed that the populations of the region fell into three groups. The first group included Khakassians, Tuvinians and Altaians, the second group consisted of Sojots, Buryats, and Mongols, while the third group was composed of Uigurs, Kazakhs, and Kyrgyzes. The isolated position of Shorians among the populations examined can be explained by their different anthropological composition and their presumptive relatedness to Finno-Ugric populations of Siberia.

[Genetic characteristics of the population of Severo-Baikal'skii region of the northern part of the Buryat Republic]. / Genetikcheskaia kharakteristika naseleniia Severo-Baikal'skogo raiona Severa Buriatii.

In the populations of seven settlements of Severo-Baikal'skii raion (Buryat Republic), 12 genetic systems were studied: ABO, Rh, MN, P, Lewis, HP, GC, TF, PI, Gm1, ABH, and the cerumen consistency. With respect to most of these genetic systems, the studied populations were either insignificantly different from other Siberian populations or intermediate between Russian populations from the European part of Russia and from indigenous Cis-Baikal populations (Buryats and Evenks). This might be related to outbreeding and selection. The observed parameters of genetic differentiation indicated that the studied system of subpopulations was at an equilibrium, with insignificant differences between subpopulations.

[Role of genetic factors in the etiology of silicosis]. / Rol' geneticheskikh faktorov v razvitii silikoza.

Examination of 15 systems of hereditary polymorphism including HLA system was conducted in 284 patients suffering from silicosis and 431 healthy subjects. The results provided genetic factors showing propensity to and resistance against silicosis. The data served as a base for silicosis risk groups formation among the staffers at occupational risk of silicosis, for occupational selection during placement to enterprises with silicosis danger.