Siberian Ethnic Groups Research Articles

Genetic aspects of lactase deficiency in indigenous populations of Siberia.

The ability to metabolize lactose in adulthood is associated with the persistence of lactase enzyme activity. In European populations, lactase persistence is determined mainly by the presence of the rs4988235-T variant in the MCM6 gene, which increases the expression of the LCT gene, encoding lactase. The highest rates of lactase persistence are characteristic of Europeans, and the lowest rates are found in East Asian populations. Analysis of published data on the distribution of the hypolactasia-associated variant rs4988235-C in the populations of Central Asia and Siberia showed that the frequency of this variant increases in the northeastern direction. The frequency of this allele is 87 % in Central Asia, 90.6 % in Southern Siberia, and 92.9 % in Northeastern Siberia. Consequently, the ability of the population to metabolize lactose decreases in the same geographical direction. The analysis of paleogenomic data has shown that the higher frequency of the rs4988235-T allele in populations of Central Asia and Southern Siberia is associated with the eastward spread of ancient populations of the Eastern European steppes, starting from the Bronze Age. The results of polymorphism analysis of exons and adjacent introns of the MCM6 and LCT genes in indigenous populations of Siberia indicate the possibility that polymorphic variants may potentially be related to lactose metabolism exist in East Asian populations. In East Asian populations, including Siberian ethnic groups, a ~26.5 thousand nucleotide pairs long region of the MCM6 gene, including a combination of the rs4988285-A, rs2070069-G, rs3087353-T, and rs2070068-A alleles, was found. The rs4988285 and rs2070069 loci are located in the enhancer region that regulates the activity of the LCT gene. Analysis of paleogenomic sequences showed that the genomes of Denisovans and Neanderthals are characterized by the above combination of alleles of the MCM6 gene. Thus, the haplotype discovered appears to be archaic. It could have been inherited from a common ancestor of modern humans, Neanderthals, and Denisovans, or it could have been acquired by hybridization with Denisovans or Neanderthals. The data obtained indicate a possible functional significance of archaic variants of the MCM6 gene.

‘북방텍스트’에 나타난 에벤키족의 샤머니즘과 생태사상

The aim of this paper is to examine the shamanic worldview of the Evenki people among Siberian shamanism and the ecological ideas associated with it in the literary texts of Siberian ethnic minority authors. Siberia is perceived as a place where shamanism originated. However, as Eliade’s theory of shamanism has been recognized as a representative research methodology, empirical research on the origin and specificity of Siberian shamanism has been stifled, and the concept of shamanism has become ambiguous, resulting in a distortion of the origin and nature of Siberian shamanism. The shamanism of Siberian ethnic minorities is a religious phenomenon that has become embedded in the archetypal structure of their emotions, psychology, and consciousness in the process of interacting with the surrounding natural environment and human and social environment, as a holistic way of life that includes rituals, rituals, myths, moral ethics, and ecological life philosophy, as well as artistic systems. During the Soviet period, shamanism and the traditions and customs of Siberian ethnic groups were increasingly usurped by social reform and Russification policies under atheistic socialism. After the collapse of the Soviet Union, writers from ethnic minorities who sought to see their culture through their own eyes, rather than relying on the findings of Western or Russian researchers, emerged and produced literature that expressed their traditional shamanic worldview. It can be said that conditions have been created for the study of Siberian shamanism to be illuminated by literature. This paper examines literary texts about the Siberian Ebenki people to explore the shamanic worldview and ecological ideas of this Siberian ethnic minority.

Endogenous and exogenous risk factors affecting the incidence of breast cancer in the population of Yakutia

The purpose of the study: to analyze the breast cancer incidence and breast cancer risk factors for the population of the Republic of Sakha (Yakutia) in 2011-2020. Material and Methods. The incidence of breast cancer in the population of Yakutia was analyzed using the data collected from population-based cancer registries of the Russian cancer statistics covering the period 2011-2020. The analysis of breast cancer risk factors was carried out using the data from systematic reviews published over the past 5 years (2018-2022). Results. The age-standardized incidence rates of breast cancer among the indigenous population of the Republic of Sakha (Yakutia) were lower than those in other Siberian ethnic groups and the Slavic population, amounting to 12.7 per 100,000 population. The rise in the breast cancer incidence rates in the region for 2011-2020 was associated with the aging of the population, since the trend in the population growth was not observed in the analysis of age-standardized rates. Conclusion. The breast cancer incidence rates among the indigenous population of the Republic of Sakha (Yakutia) are significantly lower compared to those observed in other ethnic groups living in Siberia. The rise in the breast cancer incidence rates in Yakutia is related to the aging of the population. The low age-standardized breast cancer incidence rates may be explained by a low consumption of hormonal agents and natural reproductive behavior. The search for ethno-specific mutations associated with breast cancer in the Yakut population as endogenous risk factors is of great importance. Further studies are required to elucidate the role of North-adaptive genetic mutations in the development of breast cancer. The assessment of the role of natural polyphenolic compounds, the content of which is high in wild berries (historically, a significant proportion of the food consumed by indigenous people), as a protective factor, is promising.

Integral assessment of non-specific lipid peroxidation reactions blood in adolescent girls of the Siberian ethnos

BACKGROUND: Integral parameters, in particular, the oxidative stress coefficient are informative and can be used both for evaluation of pathological conditions and compensatory-adaptive reactions of the organism.
 AIM: To investigate an integral coefficient the activity of nonspecific reactions of lipid peroxidation in adolescent girls of the Buryat, Evenki and Tofalar ethnic groups, as compared to the non-indigenous ethnic groups, by applying.
 METHODS: Total 190 adolescent girls (Buryats, Evenki and Tofalar, and nonindigenous population (for example of Russians)) living in the Irkutsk region were the objects of research. The survey was carried out in expeditionary conditions, in the territories of compact residence of ethnic groups. To calculate the integral coefficient (oxidative stress coefficient), spectrophotometry and fluorometry methods we implemented. The individual indicators: primary, secondary, and final products of lipid peroxidation as well as antioxidant defense components were measured.
 RESULTS: According to the obtained data, a lower content of diene conjugates (DC) (p 0.0001), ketodienes and conjugated trienes (KD and СT) (p=0.0003), -tocopherol (p 0.0001) with elevated levels of TBA-active products (p=0.0074) and superoxide dismutase activity (p=0.0008) in the Buryat ethnic girls group relative to similar parameters of girls in the non-ingenious population was observed. Girls of Tofalar ethnic group had higher values of DC (p=0.0009), with reduced values of KD and CT (p=0.0044) compared to the non-indigenous population. There were no differences among girls of the Evenk ethnic group relative to Russians. An integrative analysis of the state of nonspecific lipid peroxidation reactions using the coefficient showed no significant differences between the studied groups.
 CONCLUSION: The conducted study demonstrates certain changes in the lipid peroxidationantioxidant defence system, in the absence of changes in the total indicator among girls representing Siberian ethnic groups and the Russian population living next to them, which can be the basis for subsequent monitoring of their health status.

‘Russkiye’: who are they?

Abstract. The article analyses the identity of the russians, attempting to answer the question ‘Who are the “russkiye”?’ and seeking to set off a broader discourse and further research on the subject. The author indicates that historical science offers several theories concerning the origin of the ‘russkiye’: the theory of strictly Slavic origin, the theory of the Slavicisation of Finno-Ugric peoples, the theory of mixed Finno-Ugric and Turkic origin, and the theory of mixed Finno-Ugric and Slavic origin. The author believes that regardless of the abandonment of some Tatar traditions and falsification of its historical roots, the muscovite society remained an inherent successor to the Horde with a veneer of Europeanness defined by an unquenchable thirst for expansion, appropriation of history and culture, and destruction. The author argues that the country of the ‘russkiye’ poses a threat not only to Ukraine but also to the whole world. The problem is that the ‘russkiye’ cannot develop into a nation, as they remain a relic anomaly of the early Middle Ages. The ‘russkiye’ seek to compensate for their own inferiority complex by subversive activities against other countries and claiming to offer a unique third way of ‘civilisation’. In the 21st century, in spite of the kremlin’s chauvinistic policy, oppression, and bans on national education, powerful national movements are developing in Tatarstan, Bashkortostan, and the North Caucasus. Siberian ethnic groups such as the Yakuts, Chukchi, and others are becoming more prominent in this context. The author encourages further research on the subject, pointing out the sparse academic discourse around it. In the context of the full-scale war against Ukraine, it became even clearer that civilisation needs to help the ‘russkiye’ abandon the mythological idea of their background and source of origin as soon as possible. Obviously, this will lead to their empire’s disintegration (which is inevitable in any case). Its collapse will be immensely beneficial for the ethnic groups that inhabit it and for the whole world. Keywords: theories of origin, ‘russkiye’, disintegration of the muscovite empire, ethnic groups of russia.

A Modern Buryat Author as a Translator of National Character

Modern Buryat literature written in Russian still preserves the natural-historical boundaries of the writer’s ethnic nature. In the process of globalization, the problem of national character has become of particular interest, because the establishment of standard universal norms of human behavior gradually leads to the loss and blurring of the boundaries of national individuality, the uniqueness of one’s own culture. The diversity of Russian reality is especially interesting in the work of the author of the Buryat ethnicity, as the special approach and psychology of his own nationality is transmitted. Relevant for the present is the designation of a crisis situation for modern literature, including Buryat literature, since the process of unification of the national principle leads to the loss of ethnic self-consciousness and national self-identification. The main goal of the study is to identify and describe the main ways of creating the national character in modern Buryat prose in Russian. The hypothesis of the study is that the national character exists and can realize its properties as an intermediary between society and the manifestation of the ethnic unconscious, which contributes to the preservation of the identity of the nation in the conditions of globalization processes. The scientific novelty of the work lies in the definition of techniques and methods for the translation of the national character by the author. Cultural-historical and comparative-typological analysis were used as research methods. According to the results of the work, a whole complex of means and methods of the author’s transfer of national identity in the works of modern Buryat national prose has been identified, motives, cultural code and architectonic lines of the works have been considered. Literary searches for a solution to the problem of national character in the prose of writers, representatives of Siberian ethnic groups, are of great interest to literary researchers. Therefore, we see the prospects for further study of the problem in a more detailed study of the manifestation of the national character in modern Buryat prose, which will make it possible to more clearly see the vector of development of national literatures in the aspect of preserving a sense of the national.

TCF7L2 gene polymorphism in populations of f ive Siberian ethnic groups.

Investigation of the frequencies of functionally signif icant gene variants in the context of medical biology and gene geography is a relevant issue for studying the genetic structure of human populations. The transition from a traditional to an urbanized lifestyle leads to a higher incidence of civilizational diseases associated with metabolic disorders, including type 2 diabetes mellitus. The goal of the present paper is to analyze the frequencies of functionally signif icant gene alleles in the metabolic prof iles of indigenous Siberian peoples to identify the gene pool resilience, evaluate the susceptibility of various ethnic groups to metabolic disorders under changing environmental conditions, and predict the epidemiological situation that may occur in the near future. The study was performed in the monoethnic samples of eastern and western Buryats, Teleuts, Dolgans, and two territorial groups of Yakuts. A real-time PCR was used to determine the frequencies of single nucleotide polymorphisms (SNPs) G103894T, rs12255372, and C53341T, rs7903146 in the TCF7L2 gene. The results obtained were compared to the frequencies identif ied for Russians from Eastern Siberia and the values available in the literature. The frequencies of the polymorphic variants studied in the samples from the indigenous Siberian peoples place them in between Caucasian and East Asian populations, following the geographic gradient of polymorphism distribution. A signif icantly lower occurrence of type 2 diabetes risk alleles TCF7L2 (103894T) and TCF7L2 (53341T) in the samples of indigenous Siberian peoples compared to Russians was observed, which agrees with their lower susceptibility to metabolic disorders compared to the newcomer Caucasian population. Taking into account urbanization, a reduced growth in type 2 diabetes incidence may be predicted in indigenous Siberian peoples, i. e. Buryats, Yakuts, Dolgans, and Teleuts, compared to the newcomer Caucasian population. A further study of population structure with respect to different metabolic prof ile genes is required to better understand the molecular genetic foundations of the adaptive potential of indigenous Siberian peoples

IMAGE OF SIBERIA AS RUSSIAN COLONIAL ORIENT IN IVAN GONCHAROV’S TRAVELOGUE THE FRIGATE PALLADA

This article is devoted to the image of Siberia in the last chapters of Ivan Goncharov’s book the Frigate Pallada. The aim of the article is to reconstruct a comprehensive image of Siberia as an eastern colony of the Russian Empire in the Frigate Pallada. The Frigate Pallada text and the writer’s publicistic and epistolary heritage are the material for the study. The imagological and cultural approaches to the studied material are the methodological basis for this study. The specified aim and used methodology have determined the multidimensional scientific novelty of the study. We have obtained the following study results. Goncharov managed to create the comprehensive image of Siberia in the Frigate Pallada. The imagological approach to the material and G. Gachev’s concept of the national picture of the world expressed by the author’s threefold term Cosmo-Psycho-Logos are adequate to reconstruct the created writer’s image of Siberia. Goncharov contrasts the main features of the Siberian Cosmos (empty spaces and harsh climate) with the humane Siberian Psycho that is due to the harmonious coexistence of Russian settlers and indigenous Siberian ethnic groups. Siberian Logos also convincingly proves this harmonious coexistence depicted by the writer, in particular, the living interaction of the Russian language and the languages of the indigenous Siberian people. Today specialists actively research the us-them category interaction in modern imagology and in literary travelogues in particular. The writer’s comparisons with his own Russian realities are frequent in foreign Siberia. Goncharov’s approach particularity is to perceive foreign space in the light of his own space, this is his human and writer’s worldview. Thus, we have come to the following conclusions. The article demonstrates that Goncharov’s position (an adherent of the humanist ideas and an official, a secretary of the diplomatic expedition at the same time) has resulted in an idyllic positive image of the Siberian region as the eastern colony effectively mastered by the Russian Empire.

Polymorphism of lipid exchange genes in some populations of South and East Siberia

Lipid metabolism disorders underlie the pathogenesis of a number of diseases. Indigenous peoples of Siberia have a specific genetically determined type of metabolism supporting such lipid blood parameters that favor increased consumption (in comparison with Caucasians) of animal products. At the same time, indigenous Siberian ethnic groups are less susceptible to metabolic diseases. The objective of the presented study was to investigate the allele frequencies of lipid metabolism genes in indigenous populations of Siberia to identify the ethnic features of allele frequency distribution for polymorphic variants in genes CETP ( G1264A , rs5882), LPL ( C1791G , rs328) and FTO ( C83401A , rs8050136) in the samples taken from Buryats, Teleuts and Russians of Eastern Siberia, and to compare them with data on world populations. Samples of the Eastern ( N = 132) and Western ( N = 278) Buryats, Teleuts ( N = 120), Russians ( N = 122) and persons of mixed Buryat-Russian origin ( N = 56) were genotyped by real-time PCR using competitive TaqMan-probes. The obtained results have for the first time demonstrated that the CETP and FTO allele frequencies in the Buryat samples are intermediate between European and East Asian populations. Significantly lower incidence of the obesity-assossiated 83401A allele of the FTO gene has been shown in Buryats, compared with Russians, which is consistent with lower susceptibility of the indigenous ethnic groups to metabolic disorders. There have been no population differences in the distribution of LPL gene polymorphic variants associated with dyslipidemia, which means they probably do not contribute to the ethnic characteristics of the lipid profile. The intermediate frequencies of the CETP 1264G and FTO 83401A alleles found in the metis group demonstrate that the metabolic disorders associated with these variants can be rather expected in the descendants of mixed marriages than among Buryats. It has also been demonstrated that Teleuts differ by FTO 83401A allele frequency from some of the European groups and have the lowest detected frequency of the allele CETP 1264G associated with the favorable lipid blood parameters.

Exploring predictors of life satisfaction and happiness among Siberian older adults living in Tomsk Region.

Despite the growing interest in studying factors affecting subjective well-being of older adults, little research has been conducted on vast territory of Siberia (Russia) with large population. To address this lack of evidence, we explored the relationship between subjective well-being and social aspects (social and emotional support, social network, and social activities), living conditions (standards of living and residence area), self-reported health, and demographic characteristics in older adults living in Tomsk Region, Siberia. Subjective well-being was measured by life satisfaction and happiness (each measured with one 11-point question). Sample included 489 community-dwelling respondents, aged 65 or older. We found that mean life satisfaction and happiness reported by our respondents were lower than those of European countries. Higher quality of social interaction, better standards of living, and being satisfied with own health were associated with higher life satisfaction and happiness. This study provides original data on a region barely investigated and suggests that Siberian older adults receive strong benefits from social support and from social network and that similar factors are related to subjective well-being both in Siberian and Eastern European older adults. Future studies should further explore the relationship between different kinds of social support (e.g., psychological vs. material support) and subjective well-being in different Siberian ethnic groups or regions.

Analysis of eight polymorphic Alu elements in the Teleuts population

Allele frequencies and genetic diversity in the population of Teleuts were assessed by the Alu repeat polymorphism at eight autosomal loci (ACE, APOA1, PLAT, F13, PV92, A25, CD4, Dl). For comparison, the study included previously obtained data on the Alu polymorphism in 19 indigenous populations of Siberia. On the dendrogram of genetic distances, the Teleut population is located in the cluster of Siberian ethnic groups, which are similar in origin, geography, and cultural traditions.

Ecological Aspects of the Burial Rites Performed by Siberian Ethnic Groups: Sacral Topography of the Burial Sites of Narym Paleo-Selkups “Shieshgula”

This study is meant to be the start toa series of discussions relating to the complex subject of the Ecological aspects in the burial rites performed by Siberian ethnic groups . Taking into account that for aboriginals of Taiga, the symbolic or sacral attributes of living space had the same, if not greater, importance thanits practical aspects, the first publication in the series focuseson the symbolism in the location of burial sites, that are specific in Selkup culture - one of the largest ethnos in the Samoyedic language group - resided in the northern part of Western Siberia. The study is based on the materials relating to the 16th-17th centuries, however the actual time frame of the research is much wider: withmodern Selkupsat the top of the chronological scale and the Rjolkinskaya culture (VI-X centuries), linguistically related to the Samoyeds, at the bottom. The latter was formed as a result of the arrival of nomadic Turkic cultures from the south and their consequential influence on the Proto Samoyedic Kulaj cultural groupsthat occupied the territories of Western Siberia inthe early Iron Age (5 century B.C. - 5 century A.D.). It was thereforedetermined, that Selkuptraditionswere formed on the basis of a complex cultural and ethnical conglomerate, comprising ofthe materials, linguistics and religious elements belonging to the aboriginals of Taiga and many other ethnic groups from neighboring territories present since the II century B.C. This study has thereforeengaged mainlyin the materials relating to the most archaeologically studied local dialectic group, thatof theShieshgula. The members of this group usually chose landscape elevations near river forks, oxbow lakes or ravines as their burial sites.

Genetic diversity of the chromosome X in aboriginal Siberian populations: The structure of linkage disequilibrium and haplotype phylogeography of the ZFX locus

The gene pool structure of aboriginal Siberian populations has been described based on the polymorphism of the ZFX gene located on the chromosome X. In the ten populations studied, 49 haplotypes were present, three of them with high frequencies. Comparison of the obtained results with the available data from the HapMap project revealed unique African haplotypes that occurred in the Yoruba with the frequency of 3–7% and were not found in other populations. The genetic differentiation coefficient of the Siberian ethnic groups studied was 0.0486. Correlation analysis using Mantel’s test did not detect significant correlations between the genetic distance matrix and the matrices of geographic, linguistic, and anthropological differences, although the correlation with the anthropological matrix was the highest. Phylogenetic analysis proved strong isolation of the African population from the other ethnic groups investigated. The Siberian populations were divided into two separate clusters: the first one included Yakuts, Buryats, and Kets, while the second cluster included Altaians, Tuvinians, and Khanty. Using the principal component analysis, the populations were combined into three groups clearly differing by manifestation of Caucasoid and Mongoloid components. The first group included residents of Europe and one of Khanty populations, the second group included populations of South Siberia and residents of China. Mongoloid populations of East Siberia, the Japanese, and Kets were combined into the third group. Barrier analysis revealed a similar structure of genetic differentiation of Siberian populations. Linkage disequilibrium structure was obtained for six ethnic groups of Siberia. In five of them (except for the Ket population), ten ZFX SNPs formed a single linkage block.

Comparative characteristics of the gene pool of Teleuts inferred from Y-chromosomal marker data

The gene pool structure of Teleuts was examined and Y-chromosomal haplogroups composition and frequencies were determined. In the gene pool of Teleuts, five haplogroups, C3xM77, N3a, R1b*, R1b3, and R1a1, were identified. Evaluation of the genetic differentiation of the samples examined using analysis of molecular variance (AMOVA) with two marker systems (frequencies of haplogroups and Y-chromosomal microsatellite haplotypes) showed that Bachat Teleuts were equally distant from Southern and Northern Altaians. In Siberian populations, the frequencies and molecular phylogeny of the YSTR haplotypes within Y-chromosomal haplogroup R1a1 were examined. It was demonstrated that Teleuts and Southern Altaians had very close and overlapping profiles of R1a1 haplotypes. Population cluster analysis of the R1a1 YSTR haplotypes showed that Teleuts and Southern Altaians were closer to one another than to all remaining Siberian ethnic groups. Phylogenetic analysis of N3a haplotypes suggested specificity of Teleut haplotypes and their closeness to those of Tomsk Tatars. Teleuts were characterized by extremely high frequency of haplogroup R1b*, distinguished for highly specific profile of YSTR haplotypes and high haplotype diversity. The results of the comparative analysis suggested that the gene pool of Bachat Teleuts was formed on the basis of at least two heterogeneous genetic components, probably associated with ancient Turkic and Samoyedic ethnic components.

The origin of Yakuts: Analysis of the Y-chromosome haplotypes

Gene pool structure of Sakha Republic (Yakutia) native population has been studied: we defined composition and frequencies of Y-chromosome haplogroups for Yakuts. Six haplogroups: C3 x M77, C3c, N*, N2, N3a and R1a1 have been revealed in Yakut gene pool. A greater part of Y-chromosome in Yakut population belongs to N3a haplogroup (89%). All investigated Yakut population samples have low values of gene diversity, calculated based on haplogroup frequencies. Gene differentiation of the investigated samples estimated using the analysis of molecular variance (AMOVA) by two marker systems (haplogroup frequencies and microsatellite haplotypes of Y-chromosome) revealed a portion of interpopulation differences amounting to 0.24 and 2.85%, respectively. Frequencies and molecular phylogeny of YSTR-haplotypes were revealed for N3a haplogroup of Y-chromosome. Altogether forty haplotypes were found in Yakuts. Evenks and Yakuts are characterized by overlapping and very specific spectrum of N3a haplotypes, which is not typical for other Siberian ethnic groups. Cluster analysis of populations by N3a YSTR-haplotypes shows Yakut isolation from Turkic-speaking populations in the South Siberia. Genetic diversity generation time for a specific spectrum of Yakut haplotypes was estimated as 4.45 +/- 1.96 thousand years. As opposed to the data on mtDNA, the obtained results give an evidence for significant contribution of a local palaeolithic component into Y-chromosomal Yakut gene pool. Ethnogenetic reconstruction of the present picture of genetic diversity in N3a haplogroup in the territory of Siberia is under consideration.

The diversity of Y-chromosome lineages in indigenous population of South Siberia

466 Archeological and paleontological evidence suggests that South Siberia is an area where the most ancient contacts occurred between the members of Caucasoid and Mongoloid peoples. These contacts have substantially affected the racial type of most populations of Eurasia. Analysis of mitochondrial DNA (mtDNA) inherited without recombination in the maternal line has shown that Southern Siberian populations have developed on a heterogeneous genetic basis. This is a result of not only the diversity of Mongoloid components that were either indigenous to the gene pools of Siberian populations since the Paleolithic Age or introduced in different periods of time from Central Europe and East Asia, but also the presence of the Caucasoid component expressed in different degrees in most populations that have contributed into this heterogeneity [1, 2]. The nonrecombining portion of the Y chromosome inherited in the paternal line is another genetic system widely used for studying the population genetic history. The Y chromosome polymorphism has been analyzed in a wide spectrum of Asian populations; nevertheless, the data on numerous aboriginal populations of Southern Siberia are scanty with respect to both the number of populations and the set of loci studied. Therefore, there is no comprehensive idea as to how the gene pools of individual ethnic groups have been formed, taking into account the contributions of both paternal and maternal lineages [3, 4]. The paternal lineages of the gene pools of South Siberian ethnic groups were characterized using the variation analysis of 17 Y chromosome diallelic loci ( DYS287, RPS4Y, SRY-8299, M89, M201, M52, M170,

Polymorphism of the HFE gene associated with hereditary hemochromatosis in populations of Russia

Expression of hereditary hemochromatosis as well as predisposition to iron overload syndrome and sporadic porphyria cutanea tarda are currently believed to be associated with the inheritance of certain allelic variants of the HFE gene. Allele frequencies of the C282Y (845A) and H63D (187G) mutations in the HFE gene in human populations of different races are remarkably different, and the prevalence of the S65C (193T) mutation is still poorly studied. In the present study we estimated allele frequencies of HFE mutations in Russians and in a number of Siberian ethnic indigenous populations. In Russians, allele frequencies of the C282Y, H63D and S65C mutations were 3.7, 13.3 and 1.7%, respectively. These values were similar to those observed in populations of Europe. The C282Y mutation was not detected in the population samples of Siberian ethnic groups, including Mansis, Khantys (Finno-Ugric group), Altaians, and Nivkhs (Mongoloids), suggesting that the frequency of this allele in the populations examined was lower than 1%. The frequency of the C282Y allele in the Tuvinian and Chukchi samples (Mongoloids) constituted 0.45 and 0.8%, respectively. Furthermore, pedigree analysis of both Chukchi carriers discovered showed that some of their ancestors were from other ethnic groups. Low frequencies of this allelic variant is typical of many Eastern Asian populations, which are also characterized by rather low frequencies of the H63D variant. In contrast, in some ethnic groups of Western Siberia allelic frequency of the H63D mutation is rather high, constituting 8.7% in Altaians, 15.5% in Mansis, and 11.3% in Khantys. The frequency of this allele in Tuvinians, Nivkhs, and Chukchis constituted 5, 4.7, and 0.8%, respectively. These findings make it possible to estimate the proportion of individuals predisposed to iron overload syndrome in different Russian ethnic groups. The HFE allele frequency distribution patterns observed in the populations examined pointed to pre-Celtic appearance of the CY82 allele. It also provides elucidation of the evolutionary genetic relationships between Siberian ethnic groups and the contemporary populations of Eastern and Western Europe.

Genetic peculiarity of the Yakut population as inferred from autosomal loci

The autosomal gene pool of Yakuts was analyzed with a panel of polymorphic Alu insertions. The observed allele frequencies were typical for other Asian ethnic groups. Genetic differentiation of three Yakut populations was relatively high, 2%. East Siberian ethnic groups were shown to have a common gene pool and to experience no intense gene flow from other populations. Development of the Yakut gene pool was assumed to involve no substantial genetic effect of neighboring populations. The results fit both autochthonous and southern origin hypotheses.

DNA interpopulational variation in Siberian indigenous populations: The mountain Altai.

Using mtDNA and classical markers, previous studies have found that the Altai are genetically divergent from the rest of Siberia. This study uses five variable number tandem repeat (VNTR) loci to examine the relationship of the Altai to other indigenous Siberian populations. Frequencies of VNTR fragments have been obtained from the DNA of 95 individuals living in the Altai village of Mendur-Sokkon. A Kolmogorov-Smirnov test shows that the Altai are significantly different from the Evenki village of Surinda at loci D11S129 and D20S15. In addition, the Altai are also statistically different from the Evenki village of Poligus at locus D11S129. The test reveals no differences between the Ket village of Sulamai and Mendur-Sokkon. The GST value obtained for Siberia is significant and is almost equal to that found for the GST of American ethnic groups. The significance of the GST values was verified through random resampling of the data. The GST value is an effect of the relative isolation of the Evenki as well as gene flow into the Kets and Altai; this is shown in a plot of rn versus mean heterozygosity. Although genetic differentiation between the Siberian groups is significant, an R matrix analysis, which uses American and Siberian ethnic groups, shows that the Siberians form a tight cluster. When the R matrix, GST , and the Kolmogorov-Smirnov results are combined, the Altai appear to be genetically different among Siberian populations, yet they are not as genetically divergent as previous studies have shown. © 1996 Wiley-Liss, Inc.

DNA interpopulational variation in Siberian indigenous populations: The mountain Altai

Using mtDNA and classical markers, previous studies have found that the Altai are genetically divergent from the rest of Siberia. This study uses five variable number tandem repeat (VNTR) loci to examine the relationship of the Altai to other indigenous Siberian populations. Frequencies of VNTR fragments have been obtained from the DNA of 95 individuals living in the Altai village of Mendur-Sokkon. A Kolmogorov-Smirnov test shows that the Altai are significantly different from the Evenki village of Surinda at loci D11S129 and D20S15. In addition, the Altai are also statistically different from the Evenki village of Poligus at locus D11S129. The test reveals no differences between the Ket village of Sulamai and Mendur-Sokkon. The GST value obtained for Siberia is significant and is almost equal to that found for the GST of American ethnic groups. The significance of the GST values was verified through random resampling of the data. The GST value is an effect of the relative isolation of the Evenki as well as gene flow into the Kets and Altai; this is shown in a plot of rn versus mean heterozygosity. Although genetic differentiation between the Siberian groups is significant, an R matrix analysis, which uses American and Siberian ethnic groups, shows that the Siberians form a tight cluster. When the R matrix, GST, and the Kolmogorov-Smirnov results are combined, the Altai appear to be genetically different among Siberian populations, yet they are not as genetically divergent as previous studies have shown. © 1996 Wiley-Liss, Inc.