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The purpose of this article is to systematize and define the role of the animal world in the mythology of Yakut shamanism and its attributes. The topic of shamanism was studied earlier mainly from an anthropocentric point of view. At present, it is interesting to consider the role of animal images in the shamanic cult and the way their communication with the shaman takes place. The sources of the study were archival and published ethnographic and folklore materials on traditional Yakut beliefs. With their help the plots in which animals appear as patron spirits, spirit-helpers and symbolic images were revealed. The animal image of the shamanic patron spirit – “iye-kyyl” (mother-beast) which participates in the “birth” of the shaman was considered. We also paid attention to animals acting as helper spirits directly in contact with the shaman: they ensure his mobility in supernatural spaces and share their powers and abilities with him. The material use of animal images for magical and apotropaic purposes in the shaman’s paraphernalia is touched upon. The methodological basis of the study is the actor-network theory and the symbolic approach. As a result of the study, we conclude that in Yakut shamanism animal images play a significant role of intermediaries between shamans and supernatural spaces. The study reveals the ideas that spirits act in an active capacity: they do not simply carry functional roles, but are themselves the initiators of the supernatural spaces.

In the paper, the finds of fragments of bows from the “Old Buryat” burials of the 17th–18th centuries from the Baikal region are analysed, and an attempt is made to determine their genesis from the data on their technological features. On the basis of the conventional method of weapon-analysis classification, two types were distinguished by the set of the reinforcing onlays. To understand the missing structural elements, the data is drawn in on more recent fully preserved items produced locally in the 19th — early 20th c. from the museum and private collections from the territory of the Baikal region, since a genetic affinity can be traced between them and the earlier products by the available onlays. This allows one to speak about similar morphological and metric characteristics between the Buryat bows of the 19th — early 20th c. and the objects from the “Old Buryat” burials. In the result of the conducted analysis, the relationship between the distinguished type 1 and items of the 12th–14th cc. of the population of the Ust-Talkinskaya Culture of the Cisbaikalia region has been established by the onlays used and the structure of the wooden base (in comparison with the products of the Buryats of the 17th–18th cc. associated with the bows of the 19th — early 20th c.), on the basis of which it was concluded that the design evolved in the Mongolian period from a local prototype. The type 2 is also associated with ‘Mongolian type’ bows by the presence of the median frontal remiform onlay, although it has the features of Yakut’s ‘Central Asian’ bows (the end frontal straps made of staghorn with a wide and a narrow areas). In the course of the study, it has been revealed that the design of the objects of the 19th — early 20th c., predominantly Transbaikalian bows of the Selenga Buryats, has features of both the type 1 as well as the type 2, and it evolved from a local basis as a result of the synthesis of the elements of these types, thus combining the features of the northern and local workmanships. In the result, the structures appeared, which were reinforced with long end straps made of staghorn, with a long wide area creating transitional zones, and a short narrow one reinforcing the rigid limb tips. In the Cisbaikalia region, modifications of the type 1 bow were further developed by means of combining materials in the onlays of the transitional zones. All of the recorded bows, in terms of the shape of the ends and transitional zones, are much closer to the Mongolian bows of the 12th–14th c. from the rock burials of Mongolia, than to the Manchurian-Mongolian bows widespread in Central Asia since the 17th c.

Aim. To study the contribution of the Ala54Thr genetic polymorphism of the FABP2 gene to the risk of developing type 2 diabetes mellitus among the Yakut population. Materials and methods. The study included participants who filled out a questionnaire approved by the Local Committee on Biomedical Ethics at the Yakut Science Centre of complex medical problems and voluntarily signed an informed consent to conduct a genetic study. The sample consisted of 181 patients of the endocrinological department of the Republican Hospital No. 2 of the State Budgetary Institution “Center for Emergency Medical Care“ with a diagnosis of type 2 diabetes. The comparison group was a sample of 336 volunteers without chronic diseases of the Yakut ethnicity. For molecular genetic analysis, genomic DNA samples were isolated from whole blood. Single nucleotide polymorphism was determined by polymerase chain reaction followed by analysis of restriction fragment length polymorphism. Results. Study showed that polymorphism in the FABP2 gene has an impact on anthropometric parameters and blood biochemical parameters. The risk of developing type 2 diabetes was 1.7 times higher in carriers of the Ala/Thr genotype (odds ratio 1.755, 95% confidence interval – 1.212–2.542; p0.005) compared with carriers of other genotypes. When comparing the average biochemical values, the levels of aspartate transaminase, alanine aminotransferase, glucose and total bilirubin in homozygous carriers of the Ala/Ala genotype were significantly lower than in carriers of other genotypes (р0.05). Carriers of the heterozygous Ala/Thr genotype (р0.05) had the highest level in terms of aspartate aminotransferase and alanine aminotransferase. The highest indicator of the average level of HbA1c and an indicator of total bilirubin were carriers of the Thr/Thr genotype (р0.05). Conclusion. The high prevalence of the negative Thr allele among the Yakut population is probably associated with living conditions in the North, as well as in the traditional type of diet.

The article traces the dynamics of representations of the historical past of Yakutia in the publications of the monthly literary, artistic and socio-political magazine “Siberian Lights”. This issue is considered in the context of the processes of constructing the Soviet policy of memory throughout the entire period of the existence of the USSR. The relevance of the study is due to the increased attention to the specifics of historical knowledge presented in the public space, to its structures, interpretations and use for political and ideological purposes in the past and present. The novelty of the study is seen in the fact that until now the history of journal representations of the past of Yakutia in the context of state policy has not become the subject of independent scientific research. The study made it possible to identify the contexts that determined the specifics of creating journal representations of the history of Yakutia. The author established and characterized five stages of this representation. It is shown how the meanings and techniques of the politics of memory that were behind the approaches to the description and characteristics of the past of Yakutia changed. It is proved that the differences between approaches to representations were determined by the tendencies of strengthening and weakening the political and ideological control of the state in the field of memory politics and nation building.

The object of the study is the indigenous population of the North and the Arctic of the Russian Federation. The subject of the study is changes in nutrition during transition from the traditional to modernized lifestyle. The purpose of the study is to consider the risk to the health of the northerners in the quantitative and qualitative changes in the consumption of flour and starch-containing products. The consumption of bread products and starch by the population of the northern regions of the Russian Federation in the 19th – 20th centuries and in the 2010s – 2020s was estimated. Estimates of the frequencies of the amylase genes AMY1, AMY2B, AMY2A in the populations that differ in geographic localization and type of management are systemized. In the 20th century, percapita consumption of bread in Russia decreased from 700 to 260 g/day, among the indeginous northerners — from 300 to 250 g/day. The inclusion of pasta products and potato in the diet of the northerners changed the volume and structure of the consumed carbohydrate foods. The intake of high glycemic load starch increased from 100 to 250 g/day. Replacing the dried crusts with pasta and potato meals eased mastication of food, thus inducing a reflectory rise in serum glucose at ingestion and increasing the risk of developing chronic carbohydrate metabolism disorders. High-latitude populations are distinct in the prevalence of the genotypes that determine low activity of the polysaccharidase enzymes necessary for starch digestion. The ample production of amylase and less prominent blood glucose upswing in response to the consumption of starchy foods are determined by the number of successive copies of the amylase genes on the AMY locus. For the AMY1 gene, a negative correlation was found between the gene copy number and the geographical latitude of the population area (rSp = -0.19), for the AMY2A gene rSp = -0.33 (p < 0.001 in both cases). In addition, in the Arctic groups there is a high frequency of deletions of the AMY2A gene, which also lead to insufficient synthesis of pancreatic amylase. In the European populations, AMY2A deletions occur in 10–11 %; among the Khanty, Mansi, and Selkups — in 28 %; among the indigenous population of Chukotka — in 52 %. Changes in the “Arctic diet” in the 20th century led to a sharp increase in the starch consumption. With the traditional way of life, the northerners did not form adaptations to the nutrient intake of large volumes of starchy foods. In modern conditions, accumulation of nutritional, physiological and genetic factors increases the risk of metabolic disorders related to the consumption of high-starch food.

Introduction. The article examines the onym Megüren (Yak. Möŋürüön < Mögürüön) used as a name of several administrative units in the territory of Yakutia, mainly those included in Meginsky (Yak. Mäŋä) District. The available 17th-century written sources — i.e. earliest Russian-language documents on Yakuts — mention no such onym. And it was E. Pekarsky who already pointed out that the Yakut word mögürüön ‘round-thick’ could be a Mongolic borrowing and, in particular, tended to trace parallels in the Buryat language. Subsequent researchers paid no attention to both the word and the corresponding ethnonym. Goals. The paper aims to analyze origins of the word the ethnic name stems from. Materials and methods. In the absence of early historical accounts, the work explores linguistic sources to investigate phonetic appearances of the Yakut onym in question and comparable data in other languages, primarily Mongolic ones. The latter include not only vocabularies but also materials dealing with personal onomastics. Some folklore elements also prove instrumental in settling the issue. Conclusions. The analysis of phonetic properties inherent to the Yakut ethnonym möŋürüön — in comparison with different forms of the word in Buryat dialects — makes it possible to conclude that it penetrated the Yakut discourse precisely from a language essentially close to western Buryat dialects characterized by the use of /ö/ in the first syllable (/ü/ in standard Buryat) and vowel labialization in non-first syllables. Other features outline the upper chronological limit of the word’s arrival in Yakut to the late 17th century since the observed properties are as follows: /g/ > /ŋ/ assimilation; presence of a long vowel in -VgV- complex, and the intervocalic /g/ from the Mongolic /k/ not yet transformed into the Buryat /χ/.

Abstract—The study of immune response and inflammation gene polymorphisms in a genogeographic context is relevant in the study of human populations. Here, in the indigenous populations of Siberia the frequencies of polymorphic variants ‒174G/C (rs1800795) and ‒572C/G (rs1800796) of the IL6 gene encoding the proinflammatory cytokine IL-6 were determined. For the first time, it was shown that the frequencies of the ‒174G and ‒572C alleles, which determine increased inflammatory response and are also associated with several diseases were statistically significantly higher in ethnic groups of Buryats, Teleuts, Yakuts, Dolgans and Tuvinians than in Russians living in Siberia. These values were in the intermediate position between those in the European and East-Asian groups. We hypothesize an adaptive role of these IL6 genetic variants in human settlement from Africa to the Eurasian continent. However, due to the departure from the traditional way of life and the increasing anthropogenic environmental pollution, the risk of diseases whose pathogenesis is based on inflammation in indigenous Siberian populations is likely increased. [ABSTRACT FROM AUTHOR]

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.

The aim of the article is to systematize and conceptualize the similarities between the paleo-ethnographic culture of the Yakuts and the Xiongnu of Central Asia, and to assess the possible ways of their appearance and incorporation into the new environment. In addition to the published data on this topic, the main source for the preparation of this paper was authors’ field archaeological material, collected during many years of expeditions. Among the materials of the Yakut Culture, a group of objects, the origin of which is associated with the Xiongnu-Xianbei time, includes some motifs of the traditional Yakut ornament, as well as artifacts — fragments of a compound bow, whistling arrowheads, Wushu coins, burial structures, etc. The earliest finds of these types of articles come from the cultural layers of the settlement of Ulakhan Segelennyah on the Olekma River, dated to the period within 110 BC — 350 cal AD. It is believed that the Xiongnu-Xianbei community was formed at the end of the 2nd — beginning of the 3rd c. AD after the fall of the Xiongnu Empire under the blows of warlike Mongol-speaking Xianbei. We conclude that in the Middle Ages the ancestors of the Yakuts had direct or indirect cultural ties with the Xiongnu. This could happen in the way of the resettlement of a small group of Xiongnu or Xiongnu-Xianbei to the north, or, more likely, it was the result of contacts between the Xiongnu or the ancestors of the Yakuts during their residence in the south of Siberia in the Early Middle Ages. The broadcasting of Xiongnu cultural traditions through the tribes of the Tashtyk Culture of the Minusinsk depression, with which, according to some researchers, the ancestors of the Yakuts once had active ethnic and cultural contacts, is also possible. In the Yakut Culture, the southern elements turned out to be in demand, as evidenced in particular by the funerary structures of the Yakuts in the Late Middle Ages. In the Lensky region, there was a further development of products of the indicated types, which led to the formation of a peculiar appearance of the traditional culture of the Yakuts.

The paper discusses the digital inclusion of major and minor ethnic groups in Russia by comparing three broad categories of digital resources, identified in this study as components of the index of inclusion: information and communications technology (ICT) access, skills, and extent of engagement with technologies. Based on these components/subindices, we constructed an index of digital inclusion for the Russian context and tested it on a representative national sample of 765 Internet users (596 Russians, 196 Yakuts). Our study showed that Russians use more platforms for online access (mobile phones, laptops, consoles, smart TV, etc.) than Yakuts and access the Internet through a bigger number of locations, not being limited to home and/or office only. They also have higher level of social, technical, and creative ICT skills, and demonstrate higher levels of digital engagement and overall digital inclusion. We argue that the explanation here lies first of all in the geographical domain, that is traditional location of ethnic minority (Yakuts) in a region that is less digitally advantaged in terms of Internet access, cost, speed, and other factors (Far Eastern federal district), and is not related to ethnicity itself. We think therefore that this study is a good illustration of how the first and the second levels of the digital divide interrelate and influence each other, leading to a situation when people with lower access to the Internet and ICTs have lower skills and competences to use them, therefore risking to become digitally and also socially excluded. [ABSTRACT FROM AUTHOR]

Background: Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common birth defects. NSCL/P can be broadly divided into cleft lip only (CLO), cleft palate only (CPO), and cleft lip with cleft palate (CLP) based on clinical presentation. The aim of this study was to investigate the relationship between the IRF6 gene polymorphisms and non-syndromic cleft lip with or without cleft palate (NSCL/P) in the Yakut population. Methods and Results: In 23 OFC patients and 58 unrelated control subjects from the Yakut population, we tested two SNPs (rs2235371 and rs861019) with a minor allele frequency of more than 5% in the candidate gene IRF6. We found that the SNP marker rs861019 showed significant differences in allele frequencies (OR=2.07, 95%CI: 1.01–4.23, P=0.04) between the NSCL/P patients and the comparison group. Analysis of allele frequencies for rs861019 SNP in subgroups showed that there was a difference in the frequency between CLP and control (OR=5, 95% CI: 1.61-15.53, P=0.11); however, this result was not significant. Genotype analysis showed significant differences in patients from the CLP subgroup in comparison with controls for homozygous (AA compared with GG) (OR=9.00, 95% CI: 1.03–78.58, P=0.03), heterozygous (GA compared with GG) (OR=5.50, 95% CI: 1.05-28.75, P=0.04,), recessive (GG compared with GA + AA) (OR=6.67, 95% CI: 1.61-27.58; RR=4.78, 95% CI: 1.42–16.10, P=0.008,) and co-dominant (GG compared with GA, compared with AA) (P=0.02) inheritance models. Diplotype analysis showed that the NSCL/P group was more likely to have the [CC]-[GG] diplotype than the comparison group. This diplotype carries the risk GG genotype (rs861019) (30.4%) and does not carry the risk T allele(rs2235371). In the CLP subgroup, two diplotypes ([CT]-[GG] and [CC]-[GG]) were found more often than in the comparison group. Both diplotypes carry the risk GG genotype(rs861019; 33.3%). In the CPO subgroup, the [CT]-[GG] diplotype was more common. In the CLO subgroup, only two diplotypes ([CC]-[GA] and [CC]-[GG]) were found, both of which were more common than in the comparison group (75% and 25%).. It is likely that these results for the CLO and CPO subgroups were influenced by the small size of both samples. Unlike the NSCL/P and CLP groups, in these samples, diplotypes with the homozygous genotype GG (rs861019) without the homozygous genotype TT (rs2235371) were more common. Diplotypes with a homozygous genotype of the TT risk allele were not found in the studied groups except for the comparison group, where the [TT]-[AA] diplotype was represented by a low frequency (0.17%). Conclusion: The present study provides strong statistical support (for the first time to our knowledge) that genetic variants of the IRF6 rs861019 SNP are associated with NSCL/P in Yakuts.

Introduction. This article under takes a study of the clan name Shoshoolog (Šošōlog) in the context of ethnogenesis and ethnic history of the Mongolic and Turkic peoples of Inner Asia and Siberia. New historical and ethnographical data, including the evidence of ethnonymics as a part of the ethnic history of the Mongolic and Turkic peoples of the region will contribute to the knowledge of the migration and settlement history of the Shoshoolog people. The study aims at examining the etymology of the term šošōloγ, the area where it wasspread and theways of itsspread. Data and methods. The authors have taken into account written documents, ethnographical and folklore sources that contained references to the ethnonym in question. The written sources of the period between the seventeenth and nineteenth centuries, mainly in Russian, such as Cossacks’ otpiski (reports), and, more recent, travel and census reports, contain various forms of the ethnonym, often incorrectly spelled but still of interest as evidence pointing at the settlement areas of the ethnic group, as well as a source for linguistic speculation. The ethnographical sources include references to the ethnic group in question based on the legends and sagas shedding light on the people’s origin and settlement patterns both in the Baikal area and in Mongolia. The folklore texts written down by N. N. Poppe, S. P. Baldaev, etc. Include the stories of the Shoshoolog as a Buryat clan with a strong Shamanic background, as well as various forms of the ethnonym. Granted the available knowledge of the historical patterns in the language evolution, the orthographical forms of the ethnonym contained in different records were used as the data for further phonetical reconstructions and localizations of the ethnonym’s phonetic shape in terms of chronological and geographical dimensions. This data, alongside other material on the ethnonymics and onomastics of Mongolic and Turkic peoples, contributes to the linguistic part of the database in the field. Conclusions. A comparative analysis of ethnonymic evidence contained in a variety of sources examined resulted in phonetic reconstructions of the ethnonym under study to finally shed new light on its etymology, as well as to project further developments of its phonetic shape.

The purpose of this paper is to consider the transformation of the maternity rites among the Yakuts from the end of the 19th to the beginning of the 21st centuries. The area under research is the Republic of Sakha (Yakutia), Eastern Siberia. The main source base was represented by the authors' field materials collected in 2016-2018 in the Verkhnevilyuysky, Churapchinsky, Ust-Aldansky, and Megino-Kangalassky districts. The field studies were conducted using modern and traditional methods of qualitative sociology. The key methods of collecting field materials included modern historical-anthropological methods of inclusive observation, and expert and in-depth interviewing of local residents. The stages of the ritual behavior practiced in preparation for conception, pregnancy, during childbirth, and during the postpartum period, as well as aimed at survival of the newborn, have been identified and clarified. The study of the transformation of the maternity rites shows that in the modern culture of the Yakuts there are only few prohibitions related to the life of the child in the first days after birth, whereas other rituals have faded away due to the development of medicine and the loss of fear, among both women and society as a whole, of infertility or death of the woman in labor or the baby in the process of birth itself.

The article is devoted to the analysis of a new book – a monograph by O.V. Va-silyeva “Ethnicity and Society in the Republic of Sakha (Yakutia): Sociological Analy-sis”, published in 2020 in Yakutsk. Its advantage is a new original approach to studying the process of constructing ethnicity in the context of the development of capitalist relations and modern global economic flows. The reviewer gives some parallels in the social development of the Yakuts and Tatars at different historical stages. This is the emergence of the bourgeoisie and political organizations at the beginning of the 20th century, specific labeling under the influence of the Soviet Republic constitutional acts and post-Soviet census campaigns, the “acquisition of republics” in the conditions of the Soviet practice of national zoning of territories, etc. All such facts highlight how much the peoples of the Turkic world of the Russian Empire, the USSR, and the Rus-sian Fe¬deration had in common. The monograph by O.V. Vasi-lyeva encourages new research in the field of social aspects of the the Turkic world ethnicity functioning.

The aim of our research was to study the distribution of alleles and genotypes of the FTO rs9939609 SNP, the PNPLA3 rs738409 SNP, and the TM6SF2 rs58542926 SNP in the Yakut population. Methods and Results: A total of 85 DNA samples from the population were tested. An analysis of the frequency distribution of alleles and genotypes of the FTO rs9939609 SNP in the study group did not reveal significant differences. An analysis of the frequency distribution of alleles and genotypes of the PNPLA3 rs738409 SNP revealed that in men and women the G allele and the homozygous GG genotype prevailed. The results of the analysis of the frequency distribution of alleles and genotypes of the TM6SF2 rs58542926 SNP showed the predominance of individuals with the C allele (89% in men and 90% in women) with statistical significance in women. Conclusion: The further studies with a larger sample size are required to detect the features of the distribution of alleles and genotypes of the FTO rs9939609 SNP and the TM6SF2 rs58542926 SNP in that population.

The results of the analysis of the basic principles of compiling the database “Olonkhosuts of Yakutia of the 17th—20th centuries” — about the storytellers of the Yakut national epic are presented. The relevance of the research is determined by some difficulties in the systematization and design of the information content of the repository. A brief overview of the history of the study of the personalities of Yakut storytellers is given, the stages of database development are discussed in detail. It is noted that as a result of the generalization of the material a reference book that contains more than 1300 names of storytellers of the 17th-20th centuries was published by the team of the Olonkho Research Institute of M. K. Ammosov North-Eastern Federal University. Problems identified in the process of filling in the cells are described. Particular attention is paid to entering data in the national language, their transliteration and translation into Russian. The definition of the types of the second names of olonkhosuts is given, the expediency of allocating a separate field for nicknames-pseudonyms reflecting the status and popular recognition of the talent of the narrator is substantiated. A sample database table on olonkhosuts is presented. As a result of the study, the parameters for selecting data for inclusion in the repository were compiled, the need for additional research work to identify the facts of the change of residence of olonkhosuts was determined, and recommendations were proposed for improving the principles of information content of the database.

The article focuses on non-Russians who participated in the Russian conquest of eastern Siberia in the seventeenth century. As a result of recurrent wars fought by seventeenth-century Russia against Poland-Lithuania and the Crimean Khanate, numerous Polish-Lithuanian as well as Tatar nobles and soldiers found themselves as captives or prisoners of war in the tsar's service and willy-nilly participated in the colonial enterprize of the Russian Empire. Their numbers and role in the conquest of eastern Siberia cannot be dismissed as merely anecdotic and should perhaps be explained by their "cultural capital" that was consciously used by their new patrons: military experience and commanding skills, but also literacy and—in the case of Tatars—language competencies. While few of them later returned home after peace treaties and amnesties, and desertions to Manchu China are not unknown either, most of them took local wives, adopted Orthodox Christianity, and their offspring has gradually dissolved in the multiethnic Russian- and Yakutspeaking population of eastern Siberia. [End Page 73] [ABSTRACT FROM AUTHOR]

The features of the ethnocultural landscape of the Anabar national (Dolgan-Evenk) ulus of the Republic of Sakha (Yakutia) are considered. Attention is paid to the main components of cultural landscapes: local communities and traditional economy. In the study area, the retrospective analysis made it possible to identify the dynamics of the number and settlement of residents, to state the modern functioning of two rural local communities: Saskylakh and Yuryung-khainsky. It is argued that the sustainability and preservation of traditional sectors of the economy are due to the adaptation of the local population to natural landscapes. It is noted that during the XX — early XXI centuries, the traditional economic activities of the indigenous population, represented by different ethnic groups that originally inhabited the territory of the ulus, remained unchanged and, despite all the socio-economic transformations, remain vital and common for the Anabarians. The article presents the results of the analysis of a sociological survey and an associative experiment, which revealed the features of the linguistic landscape of the area under consideration, depending on different layers of self-awareness: external, with a predominance of Russian-language text in the linguistic appearance of the settlements under study; individual, with a predominance of the Yakut language in intergroup communication; and the subconscious, which revealed the dominance of the Dolgan cultural codes. It has been established that the cultural landscape of the Anabar ulus is the result of centuries-old interaction of indigenous ethnic groups inhabiting this area: Dolgans, Evenks, Yakuts and Russians.

Distribution, cultural and chronological attribution of frozen graves of Yakutia between the beginning of 17th and end of 19th century. The funerary rites and the artefacts allow to differentiate four chrono-cultural periods (before 1700 AD, from 1700 to 1750 AD, from 1750 to 1800 AD and after 1800 AD) which could be associated with historical events: opening of the trading post of Nertchinsk, expansion of the Kangalasky clan, economic collapse, generalization of Christianization.

For the past 15 years, our research has focused on the evolution of the first Yakut populations, their interaction with local tribes as well as with the Russian population, which marks the beginning of Yakutia's development from the first half of the 17th century. We conducted the excavation of tombs and we analysed the cultural, historical and paleogenetic data uncovered. A review and a synthesis of the main results published in articles and monographs informs our research directions for the future.

Abstract Background Viliuisk encephalomyelitis (VE) is a rare endemic neurodegenerative disease occurring in the Yakut population of Northeastern Siberia. The main clinical features of VE are spasticity, dysarthria, dementia, central paresis and paralysis, and cortical atrophy observed via MRI. Many hypotheses have been proposed regarding its etiology, including infectious agents, genetics, environmental factors, and immunopathology. Each of these hypotheses has been supported to some extent by epidemiological and experimental data. Nevertheless, none of them has been decisively proven. Gut microbiome is one of the factors that might be involved in VE pathogenesis. Results Here we performed a pilot survey of the stool microbiomes of Yakut subjects with VE (n = 6) and without VE (n = 11). 16S rRNA sequencing showed that in comparison with the control group, the Yakuts with VE had increased proportions of Methanobrevibacter and Christensenella, which are reported to be linked to body mass index, metabolism, dietary habits and potentially to neurodegenerative disorders. The identified associations suggest that the microbiome may be involved in VE. Overall, the Yakut microbiome was quite specific in comparison with other populations, such as metropolitan Russians and native inhabitants of the Canadian Arctic. Conclusions Describing the gut microbiome of indigenous human populations will help to elucidate the impact of dietary and environmental factors on microbial community structure and identify risks linked to the lifestyles of such groups as well as endemic diseases.

The term “conflictogenic zone” of language consciousness is associated with a complex of concepts denoting values of a particular culture expressed by means of the national language. When comparing the associative meanings of quasi-equivalent lexemes of the languages under study, there can be revealed a mismatch of the knowledge behind them, the latter leading to the conflicts of misunderstanding / incomplete understanding in the situation of intercultural communication. Thus, the spheres of national traditions, family and confessional relations and, in general, the sphere of ideas about oneself and about one’s ethnic neighbours, are undoubtedly conflictogenic (i.e. dissimilar in content or completely lacunar). The results of an associative experiment conducted with native speakers of Russian and national languages in two regions of the Russian Federation (i.e. the Republic of Tatarstan and Sakha (Yakutia)) demonstrate the differences in the above-mentioned ideas depending on the region of living and national identification of the informants. The study was conducted in the native language of the informants, the latter being asked to write down a spontaneous word-reaction to ethnonymic stimuli. Then the semantic gestalt of each stimulus was simulated for each group of the informants, with the semantic zones “subject”, “object”, “characteristic”, etc. being identified and statistically analysed. The analysis revealed certain differences; the results of the research can be used to optimize intercultural communication and prevent communicative and other conflicts.

The experience of carrying out a hypothetical reconstruction of women's clothing "tangalai" XVII-XVIII centuries is considered. It is reported that this sample of clothing was found during archaeological research in 2016 in the area of At-Byran, Khangalassky district of the Republic of Sakha (Yakutia). Earlier it was revealed that the tangalai was part of the bride’s costume, which means an indispensable element of the wedding ceremony. As a result of studies of the Yakut burials of the XVII-XVIII centuries, it was established that the tangalai was included in the complex of accompanying material during the funeral rite of a married woman. An analysis of ethnographic literature, the results of field scientific research, available visual sources was made, fragments of clothing stored in museums extracted from funerary monuments were studied. As the study showed, the tangalai from the At-Daban VI burial has similar features with samples of similar shoulder-clothes found and studied earlier: general principles of decor, color scheme, and peculiarities of the location of sewn jewelry. Distinctive features: a lowered waist line and narrow bibs were revealed. Based on a detailed study of the original source, masters of decorative and applied art carried out a hypothetical reconstruction of the tangalaya. Attention was paid to leather processing, seams, design features. Unsaved pieces of clothing were recreated using existing analogues.

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The aim of the study was to identify clinical and demographic characteristics of the trigeminal neuralgia in the Republic of Sakha (Yakutia), based on a retrospective and prospective analysis. A comprehensive analysis and evaluation of archival material of Neurology department of Republican hospital N2 - the Center for Emergency Medical Aid for 2 001-2011 was carried out. A prospective study was performed in 77 patients (60 women and 17 men) at the Department of Maxillofacial and Plastic Surgery and Neurology, RB N 2 CEMP. Studies have revealed the prevalence of patients with trigeminal neuralgia among women of Yakut ethnic group. The clinical course was more common combined lesion branches of the trigeminal nerve, often with separate injury suffered second branch of the trigeminal nerve. The results will be the basis for the improvement of care for patients with trigeminal neuralgia living in the North

Aim. To establish the main external and genetically determined risk factors for the development of hepatocellular cancer in the ethnic group of male Yakuts living in the Republic of Sakha (Yakutia) [RS (Y)] in the epidemiologically unfavorable conditions of the incidence of viral hepatitis. Materials and methods. A total of 97 male Yakuts were examined, including 44 people diagnosed with hepatocellular cancer and 53 people diagnosed with chronic viral hepatitis. HCC risk factors were identified by analyzing medical records and questioning patients. In the experimental and control groups, genetic studies of single nucleotide polymorphisms of genes mapped on the X-chromosome and involved in the activation of antiviral immunity along the TLR7 signaling pathway were performed. Results and discussion. In 100% of patients with hepatocellular cancer, infection with hepatitis B, C, D viruses or co - infection with these agents was detected. Every fourth patient with HCC in the RS (Y) was infected with hepatitis D. The course of hepatocellular cancer associated with HDV was characterized by rapid progression of liver cirrhosis, development of portal hypertension, bleeding from varicose veins of the stomach and esophagus (36.4%) and edematous ascitic syndrome (63.6%). In addition to viral agents, additional risk factors for liver cancer were identified, such as alcohol abuse, overweight, diabetes mellitus, and smoking. Among the studied variation sites of genes localized on the X-chromosome and encoding the reaction of innate antiviral immunity, no genetic marker was found with a sufficient degree of confidence determining the likelihood of hepatocellular cancer developing. Conclusions. The high incidence of hepatocellular carcinoma of the male population in the RS (Y) is due to the widespread prevalence of parenteral viral hepatitis, especially viral hepatitis D. Due to the introduction of mass vaccination of the population against hepatitis B in the Russian Federation in the foreseeable future in the RS (Y) we should see a decrease in the proportion of hepatocellular cancer associated with hepatitis B and D viruses, and therefore the focus should be on the treatment and prevention of hepatitis C virus and non - infectious risk factors.

The purpose of this study was to determine T1D-susceptible HLA DR-DQ haplotypes in Yakuts using 3 single nucleotide polymorphisms (rs3104413C/G, rs2854275G/T and rs9273363A/C). A total of 92 patients with a verified diagnosis of T1D (Group 1) were examined. The comparison group consisted of 210 people (Group 2) without autoimmune diseases and without hereditary predisposition. All participants were Yakuts by ethnicity. According to the results of genotyping, it was established that the haplotype DRB1*03:01-DQA1*05:01-DQB1*02:01 corresponds to the rs3104413C/C-rs2854275T/T combination and the rs3104413C/G-rs2854275G/T-rs9273363C/C combination. DRB1*04:01–DQA1*03:01-DQB1*03:02 haplotype (DR4-DQ8) is the rs3104413G/G-rs9273363A/C combination, the rs3104413C/G-rs2854275G/G-rs9273363A/C combination, and the rs3104413C/G-rs2854275G/G-rs9273363A/A combination. DR3/4-DQ8 haplotype is the rs3104413C/G-rs2854275G/T-rs9273363A/A combination and the rs3104413C/G-rs2854275G/T-rs9273363A/C combination. DRB1*04:01-DQA1*03:01-DQB1*03:01 haplotype is the rs3104413G/G-rs9273363C/C combination, the rs3104413C/G-rs2854275G/G-rs9273363C/C combination, and the rs3104413C/G-rs2854275G/T-rs9273363C/C combination. A combination of rs3104413C/C with rs2854275G/G was characterized by the absence of DR3 and DR4, which may be due to the presence of a different genetic variant in these individuals. A combination of rs3104413C/C with rs2854275G/T was characterized by the presence of only one type of DR3 and a variant of the type that does not belong to either DR3 or DR4. An analysis of the evaluation of the effectiveness of a diagnostic test using the Youden index demonstrated significance for all combinations of genotypes of the studied polymorphisms.

The research objective was to conduct a retrospective study of patients with Juvenile arthritis (JA) in association with the carriage of the HLA-B27 allele. Materials and Methods: A total of 73 patients (39 boys and 34 girls aged from 1 to 16 years, mean age of 10.28±4.24 years) living in Yakutia with Juvenile Chronic Arthritis (JCA), Juvenile Ankylosing Spondylitis (JAS), Juvenile Psoriatic Arthritis (JPsA), and reactive arthritis (RA) were examined. Among them, 62(84.9%) children were of Yakut nationality, and 11(15.1%) – the Russian nationality. The control group included 85 Yakuts without clinical diagnosis of arthritis. Testing for the HLA-B27 allele was performed according to Dominquez et al. (1992) as modified by Steffens-Nakken et al. (1995). Results: According to the genotyping results, in 30 of 73 examined samples an association was found between the HLA-B27 allele carriage and JA. The HLA-B27 allele was diagnosed in 24(38.7%) Yakuts and 6(54.5%) ethnic Russians. For further analysis, all patients (Yakuts, Russians) were divided into diagnosis-related groups. Diagnoses of JAS (n=10) and JCA (n=9) prevailed in Yakuts. In the Russian children, RA was more common (n=4). In population sampling of Yakuts, the frequency of the HLA-B27 allele was 33%. A comparison of the frequencies of the HLA-B27 allele among the Yakut patient groups and the control group found a statistically significant association with JAS. The carriage of the HLA-B27 allele in Yakut females did not increase the risk of JAS development, whereas in male Yakuts this risk increased by 5.6 times.

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The global trend toward the reduction of human spermatogenic function observed in many countries, including Russia, raised the problem of extensive screening and monitoring of male fertility and elucidation of its genetic and ethnic mechanisms. Recently, whole-exome sequencing (WES) was developed as a powerful tool for genetic analysis of complex traits. We present here the first Russian WES study for identification of new genes associated with semen quality. The experimental 3 × 2 design of the WES study was based on the analysis of 157 samples including three ethnic groups—Slavs (59), Buryats (n = 49), and Yakuts (n = 49), and two different semen quality groups—pathozoospermia (n = 95) and normospermia (n = 62). Additionally, our WES study group was negative for complete AZF microdeletions of the Y-chromosome. The normospermia group included men with normal sperm parameters in accordance with the WHO-recommended reference limit. The pathozoospermia group included men with impaired semen quality, namely, with any combined parameters of sperm concentration <15 × 106/ml, and/or progressive motility <32%, and/or normal morphology <4%. The WES was performed for all 157 samples. Subsequent calling and filtering of variants were carried out according to the GATK Best Practices recommendations. On the genotyping stage, the samples were combined into four cohorts: three sets corresponded to three ethnic groups, and the fourth set contained all the 157 whole-exome samples. Association of the obtained polymorphisms with semen quality parameters was investigated using the χ2 test. To prioritize the obtained variants associated with pathozoospermia, their effects were determined using Ensembl Variant Effect Predictor. Moreover, polymorphisms located in genes expressed in the testis were revealed based on the genomic annotation. As a result, the nine potential SNP markers rs6971091, rs557806, rs610308, rs556052, rs1289658, rs278981, rs1129172, rs12268007, and rs17228441 were selected for subsequent verification on our previously collected population sample (about 1,500 males). The selected variants located in seven genes FAM71F1 , PPP1R15A , TRIM45 , PRAME , RBM47 , WDFY4 , and FSIP2 that are expressed in the testis and play an important role in cell proliferation, meiosis, and apoptosis. [ABSTRACT FROM AUTHOR]

The article explores new approaches to studying the jewelry art of the Turkic peo-ples of Eurasia. First of all, it presents the analysis of the facts mentioned in the collec-tive monograph on Eurasian Turkic peoples’ jewelry, which was written by the most prominent experts in this field from research institutions of Russia. This fundamental work presents analytical studies of Turkic-speaking peoples’ jewelry: Tatars of the Vol-ga and Ural regions, Yakuts, Buryats and others. The authors systematized a vast amount of materials, distributed it into groups and categories, and highlighted the kinds and types of products. The definitions of produced items functionality and their formal features served as the ground for classification. The articles provide reasoned infor-mation about the origin of certain types of jewelry, the time of their occurrence and exis¬tence. Appeal to the mythology of the peoples who made such products is of parti-cular interest. This made it possible to understand and present the special role of jewelry in the world view and its significance in the mythological ideas of the Universe and the world. Technological methods of jewelry making of the Turkic peoples of Eurasia are examined, the specifics of the production and artistic methods of applying the decor are identified. Obviously, the processes of artistic crafts formation, as well as fabrication of produced items, have a long history associated with the processes of ethnocultural interaction.

The study of the origin of the Yakuts focuses on the ethnic history of their alien Turkic-Mongolian ancestors. Issues of mutual ethnocultural influence of local and alien ethnic groups and identification of autochthonous tribes who took part in formation of the Yakut people are not fully researched. Yakut legends mention the tribes «which became wind», Khara-Sagyly, the mysterious «long-headed» Sakha, the bellicose Tumats/Jirikinei, etc. The question of their ethnic identification is one of the most complex and not fully developed within the issue of ethnocultural genesis of the Yakuts. Some researchers (A.P. Okladnikov, S.I. Tokarev, I.V. Konstantinov, I.E. Zykov and A.I. Gogolev) consider these autochthonous tribes as the Tungusic peoples. According to a hypothesis by A.N. Alekseev and S.I. Nikolaev-Somogotto, an aboriginal layer in the Yakut culture was probably represented by paleo-Siberian and pre-Samoyedic tribes. A successful study of this issue was largely impeded by the lack of informative and sufficiently reliable sources. This problem has been partly solved due to new archaeological discoveries in the last decade, especially to that of a multi-layered man site in Ulakhan Segelenneekh on the Olekma river and thanks to the data of modern molecular-genetic researches. An attempt of a paleoethnic reconstruction of the original culture of the autochthonous tribes of Yakutia and of a comparative historical analysis of ancient traditions and cultures of indigenous peoples of Northern Asia was made in the article combining the data on folklore, toponymics, ethnography, archaeology and ethnic genetics. Integrated research data tell about the presence of ancient ethnocultural links between ancestors of the Yakuts and modern Ural peoples of Western Siberia. The tribes from historical lore and Yakutian legends are said to be aboriginal population of the north-western border of Yakutia, successors of the local archaeological cultures of the Late Neolithic and the Paleometal Age. The material given describes ethnocultural complex processes that took place in ancient Yakutia, which contributed to the formation of the Yakut ethnos and its culture.

The article presents a pioneer in the domestic historiography attempt of scientific understanding of the historical evolution of the practices of using the advantages that gives Yakut long period of stable low temperatures in the food system of the Yakuts during the XIX - beginning of the XXI centuries. While preparing this work, the author relied on a new direction of scientific research developed under the guidance of academician V. P. Melnikov - cryosophy, in which the cold climate is perceived as a source of additional benefits and opportunities to humanity. In this regard, the article shows the role of climatic conditions of winter time in the preparation of food and its storage. It is established that, despite the certain sequestration of practices of the use of such “cold resources” happened due to the complex of objective and subjective factors, they continue to occupy a serious place in the life of the Yakuts. In addition, the positive significance of the interethnic dialogue of the population of Yakutia was noted in terms of the exchange of experience relating to the application of the studied in the work “winter preferences” and its development.

Берестяные изделия в собрании Национального художественного музея Республики Саха (Якутия), выполненные в соответствии с канонами и художественным стилем, яркий показатель материальной и духовной культуры якутов. В статье представлена типология берестяных изделий из коллекции музея по способу изготовления и декору, дан анализ техники, комплекса выразительных средств и их символического значения. По якутским поверьям береза была священным деревом божеств Верхнего мира, она защищала человека от действий темных сил и болезней. Изделия из бересты помимо утилитарных целей имели важное культовое значение. В берестяных изделиях XX начала XXI века сохраняется архаичная стилистика и техника, демонстрируя нераздельность старого и нового. Каждая мастерица, выражая одухотворенное отношение к природе, обращается к огромному культурному пласту, используя многовековой отбор форм, орнаментики, технологических приемов, которые хранят в себе большие возможности. Бесконечно возрождающийся во множестве творческих вариантов, этот феномен демонстрирует единство в традиционном русле якутской пластики.

The Kurykan people were seen for the first time in the mourning ceremony of the Turk kagan and were recorded in the Orkhun Inscriptions. They were one of the nomadic tribes spread on the west side of Baikal Lake and they were known as both enemy and friend. It is very interesting that runic texts of the Kurykan were found in Lena and Angara. The Kurykan people were recorded as Gulikan or Ku-li-kan by the Chinese which is one of primary sources for early Turkic history. They were identified as Furi or Kuri people from Islamic sources. Historical sources recorded that they were renowned for their beautiful horses. There are three main opinions about them: They are accepted as ancestors of the Yakut, Buriat, or Mongolian Khor tribe. In this article, we recognize them as ancestors of the Yakuts. They lived in Baikal and its surrounding area, practiced animal husbandry and were horse breeders. They were also good blacksmiths. They had an army of five thousand soldiers to show their strength and power. They created the Kurumchi Culture and left behind especially important cultural materials. These topics will be examined according to material cultural elements and their importance in Turkic history will be emphasized. [ABSTRACT FROM AUTHOR]

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The article discusses the issues of the methods and principles of the formation of two-component names of medicinal plants (phytonyms) with the component "ot" (grass) growing on the territory of the Extreme North of Russia - Yakutia as part of an interdisciplinary research at the junction of linguistics and biology. Attention is paid to the study of semantic features of phytonyms of the Yakut medical plants. The results of linguistic analysis are presented, which are compared with the methods of using medicinal plants with herbal extracts and herbalists and collected during expeditionary work. Particular attention is paid to the definition of universal models of formation of medical phytonyms in the Yakut language and identifying some methods of the word-formation system of lexical units denoting names of medicinal plants based on the appearance and form of any of the parts, designating a characteristic place of growth, identifying a functional trait and determining the affiliation of a medicinal plant. The novelty of the research is seen in the fact that the study of the names of medicinal plants in the Yakut language is conducted for the first time. The relevance of the study is due to the fact that the study of the vocabulary of the Yakut language in a comparative historical aspect will improve the existing results and open new directions in the study of the history of the Turkic languages. Universal models of the formation of phytonyms of medicinal plants in the Yakut language are proposed, which reveal a regional peculiarity. [ABSTRACT FROM AUTHOR]

Basing on the analysis of the archaeological data on medieval burials of Yakuts we raise the problems of interpretation of graves with traces of an ancient ritual penetration and violation of burial structures and of anatomical integrity of the skeletons of the buried, using ethnographic and folklore data. We give a generalized description of the main types of disturbed graves of the late Middle Ages of Yakutia: secondary burial, embalming, rendering a dangerous dead harmless, desecration, robbery, etc. We provide historical and comparative data from the ancient and medieval cultures of Central Asia, Southern Siberia and the Far East. We examine philosophical ideas about the afterlife, ritual actions of Yakuts against «dangerous» dead and sacred people.

Allele frequencies of single nucleotide polymorphisms (SNPs) are variable among different populations; therefore the study of SNPs in ethnic groups is important for establishing the clinical significance of the screening of these polymorphisms. The main goal of the research is to study the polymorphisms of CYP2C9, CYP2C19, VKORC1, and SLCO1B1 in Yakuts. Genomic DNA from 229 Yakut subjects were analyzed by real-time polymerase chain reaction (PCR) (SLCO1B1 +521T > C, VKORC1 -1639G>A, CYP2C19 +681G>A, +636G>A, CYP2C9 +430С>T, +1075A>C). Genotype frequencies of polymorphisms in the population of the Yakuts were more characteristic of the Asian population. The results have been included in the software application “Lekgen” that we developed for the interpretation of pharmacogenetic testing. The data of our study obtained on frequency carriers of polymorphisms of genes SLCO1B1, СYP2C19, CYP2C9, VKORC1 among the Yakuts may be useful in developing recommendations for a personalized therapy.

Background: The aim of this study was to determine carrier frequencies of the polymorphic markers G1846A (CYP2D6*4) and C100T (CYP2D6*10) of the CYP2D6 gene in coronary heart disease (CHD) patients in Russian and Yakut ethnic groups. The association between the administration of higher doses of bisoprolol and metoprolol and the carriage of these polymorphic markers related to the decreased function of the haplotype of CYP2D6 was also studied. Methods: The study included 201 CHD patients (aged 66±8.7 years) receiving metoprolol in titrated dose (12.5–150 mg), bisoprolol (2.5–10 mg) or atenolol (50 mg). Ninety-three patients were Russian (30 men and 63 women), and 108 patients were Yakut (54 men and 54 women). Results: In genotyping CHD patients in the Russian and Yakut ethnic groups, there was no significant difference in the prevalence rate of the polymorphic markers G1846A (10.8 vs. 10.2; p=0.871) and C100T (16.1 vs. 16.2; p=1). In patients carrying the polymorphic marker G1846A, the dose of bisoprolol was established to be lower than that in the control group (p=0.0289). Conclusions: The carriage frequency of polymorphic markers, which theoretically should differ between Russians and Yakuts as representatives of two different races, in practice turned out to be the same. [ABSTRACT FROM AUTHOR]

The studies of material and spiritual culture of the Siberian peoples are traditionally of great interest, since they expand the possibilities for determining the chronological depth of ethnic traditions and help to solve some problems of cultural contacts. This article highlights the most archaic features of wedding ceremonies of the Yakuts. The author carries out the comparative analysis of some ceremonial features of the Yakuts culture and the same features of some other peoples of Siberia. One of the most important forms of family and ritual life of the ancient custom of avoidance is considered. On the basis of archival material the author describes the functions and adherence of special rules and traditional etiquette in a ritual action. The special attention has been focused on the attributes of the ritual actions, in particular, on the fur, as personal ritual clothing. In many cases it has the magic value associated with ancient ideological representations of people, thus serving as a magic of procreator, and the women has contributed to the well-being of the family. The characteristic facial veils serve as an indicator of social status of the bride. The comparative analysis made it possible to prove that this custom has ethnocultural parallels with many Indo-Iranian and Turkic, Ugro-Samoyedic peoples.

This is the first-time comparison of pneumonia course severity in two different ethnic groups of children in the conditions of the Far North with the account of acetylatory phenotype and intensity of free-adical oxidation. Genetic polymorphism on activity of N-cetyltransferase (N-АТ) enzyme is present in the majority of human populations as some have fast and others slow form of enzyme. According to this there are phenotypically distinguished people with slow and fast acetylatory phenotype, so-called slow and fast acetylators (SА and FА). SА-сhildren are to a greater degree the subject to complications in the cases of infectious diseases and do not easily response to therapies. The purpose of our research was to estimate the value of acetylatory phenotype of a child during the development of an acute respiratory infection complicated by pneumonia in both populations of children of Sakha Republic (native population – Yakuts and arrived population – Russians). There has been performed the examination of 112 children with acute respiratory infections complicated by pneumonia, and 49 practically healthy ones in the conditions of the Far North (Sakha). It is demonstrated that both Yakuts and Russians have to fight with pneumonia by free-radical oxidation activation (at the expense of “respiratory burst” reactions). It has been revealed that in the conditions of the Far North both hormones of stress, cortisol and somatotropic hormone work actively. The level of growth hormone was 2 times higher even in healthy Russian children to compare with Yakuts, (the level of growth hormone was 1,5 times higher among FА comparing with SА). The subpopulation structure of blood lymphocytes in SА-patients to a less degree depends on the intensity of free-radical oxidation to compare with FA-patients, especially in Yakuts population. Two independent parameters – speed of acetylation and free-radical oxidation intensity, regulating cell activation, synthesis of protection mediators and the level of hormones in blood, as well as cytotoxic properties of lymphocytes interact with each other, influencing the regulation of metabolism and separate mechanisms of immune response. This type of influence is to a greater degree expressed in children of Yakuts to compare with Russians. Depending on the combination of acetylation type and free-radical oxidation level during an acute phase of acute respiratory infection there is a change of a profile of immune protection due to the activation of cellular Th1-response or IgA production in mucous membranes. It is demonstrated that the stimulation of cellular response is more characteristic for Yakut-children, and humoral one for Russian-children. There have been revealed the features of pneumonia course, the metabolic laws of the development of adaptation response to infectious stress and the maintenance of immune homeostasis with taking into account a genophenotype of acute respiratory infection complicated by pneumonia in children of the Far North. The value of the research of N-АТ activity level in cases of acute respiratory infection complicated by pneumonia in ill children (Yakuts and Russians) in the conditions of the Far North is underlined as the reason for its further use as a marker of the predisposing factor for complicated acute respiratory infection and other infections.

Here, we report a novel hemizygous transition c.975G>A (p.Trp325*) in POU3F4 gene (Xq21) found in two deaf half-brothers from one Yakut family (Eastern Siberia, Russia) with identical inner ear abnormalities ("corkscrew" cochlea with an absence of modiolus) specific to X-linked deafness-2 (DFNX2). Comprehensive clinical evaluation (CT and MR-imaging, audiological and stabilometric examinations) of available members of this family revealed both already known (mixed progressive hearing loss) and additional (enlargement of semicircular canals and postural disorders) clinical DFNX2 features in affected males with c.975G>A (p.Trp325*). Moreover, mild enlargement of semicircular canals, postural abnormalities and different types of hearing thresholds were found in female carrier of this POU3F4- variant. [ABSTRACT FROM AUTHOR]

SOPH syndrome (Short stature with Optic nerve atrophy and Pelger-Huët anomaly syndrome, OMIM#614800) is an autosomal recessive hereditary disease characterized by the following main clinical symptoms: postnatal hypoplasia, proportionately short stature, facial dysmorphism, micromelia of feet and hands, limp and loose skin, optic nerve atrophy, and Pelger-Huët anomaly of neutrophils. For the first time, this disease was described in Yakuts. The molecular-genetic study showed that its cause in Yakuts is mutation G5741→A in gene NBAS. On the basis of disequilibrium analysis for linkage of ten microsatellite markers flanking the NBAS gene with the disease, the haplotype of the founder chromosome was determined. The age of the mutation in Yakutia was estimated to be about 804 ± 140 years. The frequency of heterozygous carriers of mutation G5741→A (R1914H) in gene NBAS was found, which averaged 13 per 1000 healthy Yakuts. [ABSTRACT FROM AUTHOR]

Allele frequencies of single nucleotide polymorphisms (SNPs) are variable among different populations; therefore the study of SNPs in ethnic groups is important for establishing the clinical significance of the screening of these polymorphisms. The main goal of the research is to study the polymorphisms of CYP2C9, CYP2C19, VKORC1, and SLCO1B1 in Yakuts. Genomic DNA from 229 Yakut subjects were analyzed by real-time polymerase chain reaction (PCR) (SLCO1B1 +521T > C, VKORC1 -1639G>A, CYP2C19 +681G>A, +636G>A, CYP2C9 +430C>T, +1075A>C). Genotype frequencies of polymorphisms in the population of the Yakuts were more characteristic of the Asian population. The results have been included in the software application "Lekgen" that we developed for the interpretation of pharmacogenetic testing. The data of our study obtained on frequency carriers of polymorphisms of genes SLCO1B1, CYP2C19, CYP2C9, VKORC1 among the Yakuts may be useful in developing recommendations for a personalized therapy. [ABSTRACT FROM AUTHOR]