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<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">vavilov</journal-id><journal-title-group><journal-title xml:lang="ru">Вавиловский журнал генетики и селекции</journal-title><trans-title-group xml:lang="en"><trans-title>Vavilov Journal of Genetics and Breeding</trans-title></trans-title-group></journal-title-group><issn pub-type="epub">2500-3259</issn><publisher><publisher-name>Institute of Cytology and Genetics of Siberian Branch of the RAS</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.18699/VJGB-23-07</article-id><article-id custom-type="elpub" pub-id-type="custom">vavilov-3631</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>ПОПУЛЯЦИОННАЯ ГЕНЕТИКА ЧЕЛОВЕКА</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>HUMAN POPULATION GENETICS</subject></subj-group></article-categories><title-group><article-title>Связь генофонда хантов с народами Западной Сибири, Предуралья и Алтая-Саян по данным о полиморфизме аутосомных локусов и Y-хромосомы</article-title><trans-title-group xml:lang="en"><trans-title>Relationship of the gene pool of the Khants with the peoples of Western Siberia, Cis-Urals and the Altai-Sayan Region according to the data on the polymorphism of autosomic locus and the Y-chromosome</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-1679-2212</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Харьков</surname><given-names>В. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Kharkov</surname><given-names>V. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Томск</p></bio><bio xml:lang="en"><p>Tomsk</p></bio><email xlink:type="simple">vladimir-kharkov@medgenetics.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-8855-577X</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Колесников</surname><given-names>Н. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Kolesnikov</surname><given-names>N. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Томск</p></bio><bio xml:lang="en"><p>Tomsk</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Валихова</surname><given-names>Л. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Valikhova</surname><given-names>L. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Томск</p></bio><bio xml:lang="en"><p>Tomsk</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Зарубин</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Zarubin</surname><given-names>A. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Томск</p></bio><bio xml:lang="en"><p>Tomsk</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Сваровская</surname><given-names>М. Г.</given-names></name><name name-style="western" xml:lang="en"><surname>Svarovskaya</surname><given-names>M. G.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Томск</p></bio><bio xml:lang="en"><p>Tomsk</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Марусин</surname><given-names>А. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Marusin</surname><given-names>A. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Томск</p></bio><bio xml:lang="en"><p>Tomsk</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Хитринская</surname><given-names>И. Ю.</given-names></name><name name-style="western" xml:lang="en"><surname>Khitrinskaya</surname><given-names>I. Yu.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Томск</p></bio><bio xml:lang="en"><p>Tomsk</p></bio><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-5166-331X</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Степанов</surname><given-names>В. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Stepanov</surname><given-names>V. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Томск</p></bio><bio xml:lang="en"><p>Tomsk</p></bio><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru">Научно-исследовательский институт медицинской генетики, Томский национальный исследовательский медицинский центр Российской академии наук<country>Россия</country></aff><aff xml:lang="en">Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences<country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2023</year></pub-date><pub-date pub-type="epub"><day>07</day><month>03</month><year>2023</year></pub-date><volume>27</volume><issue>1</issue><fpage>46</fpage><lpage>54</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Харьков В.Н., Колесников Н.А., Валихова Л.В., Зарубин А.А., Сваровская М.Г., Марусин А.В., Хитринская И.Ю., Степанов В.А., 2023</copyright-statement><copyright-year>2023</copyright-year><copyright-holder xml:lang="ru">Харьков В.Н., Колесников Н.А., Валихова Л.В., Зарубин А.А., Сваровская М.Г., Марусин А.В., Хитринская И.Ю., Степанов В.А.</copyright-holder><copyright-holder xml:lang="en">Kharkov V.N., Kolesnikov N.A., Valikhova L.V., Zarubin A.A., Svarovskaya M.G., Marusin A.V., Khitrinskaya I.Y., Stepanov V.A.</copyright-holder><license license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://vavilov.elpub.ru/jour/article/view/3631">https://vavilov.elpub.ru/jour/article/view/3631</self-uri><abstract><p>Ханты – коренной сибирский народ, проживающий на территории Западной Сибири, в основном на территории Ханты-Мансийского и Ямало-Ненецкого автономных округов. Настоящее исследование направлено на комплексный анализ структуры генофонда хантов и их сравнение с другими популяциями коренного населения Южной и Западной Сибири. Для решения вопросов генетической близости хантов с другими коренными народами выполнено генотипирование широкого геномного набора аутосомных маркеров с помощью высокоплотных биочипов, а также расширенного набора SNP- и STR-маркеров Y-хромосомы у различных этнических групп: хакасов, тувинцев, южных алтайцев, сибирских татар, чулымцев (тюркская языковая семья) и кетов (енисейская языковая семья). Результаты анализа частот аутосомных SNP различными методами, сходства по составу гаплогрупп Y-хромосомы и YSTR-гаплотипов свидетельствуют, что генофонд хантов достаточно специфичен. При анализе аутосомных SNP в обеих выборках полностью доминирует угорский генетический компонент (до 99–100 %). Выборки хантов показали максимальное совпадение по IBD-блокам между собой, с выборкой кетов, чулымцев, тувинцев, томских татар, хакасов-качинцев и южных алтайцев. Степень совпадения IBD-блоков между хантами, кетами и томскими татарами согласуется с результатами распределения в этих популяциях частот аллелей и общих генетических компонентов. По составу гаплогрупп Y-хромосомы две выборки хантов значительно различаются между собой. Детальный филогенетический анализ различных гаплогрупп Y-хромосомы позволил описать и уточнить различия в филогении и структуре отдельных этноспецифичных сублиний, определить их родство, следы экспансии численности в генофонде хантов. Варианты разных гаплогрупп Y-хромосомы у хантов, хакасов и тувинцев восходят к общим для них предковым линиям. Результаты сравнительного анализа образцов мужчин также свидетельствуют о близком генетическом родстве между хантами и ненцами, коми, удмуртами и кетами. Специфичность гаплотипов, обнаружение различных терминальных SNP подтверждают, что ханты достаточно долго не имели контактов с другими этносами, кроме ненцев, в состав которых вошло много хантыйских родов.</p></abstract><trans-abstract xml:lang="en"><p>Khanty are indigenous Siberian people living on the territory of Western Siberia, mainly on the territory of the Khanty-Mansiysk and Yamalo-Nenets Autonomous Okrugs. The present study is aimed at a comprehensive analysis of the structure of the Khanty gene pool and their comparison with other populations of the indigenous population of Southern and Western Siberia. To address the issues of genetic proximity of the Khanty with other indigenous peoples, we performed genotyping of a wide genomic set of autosomal markers using high-density biochips, as well as an expanded set of SNP and STR markers of the Y-chromosome in various ethnic groups: Khakas, Tuvans, Southern Altaians, Siberian Tatars, Chulyms (Turkic language family) and Kets (Yeniseian language family). The structure of the gene pool of the Khanty and other West Siberian and South Siberian populations was studied using a genome-wide panel of autosomal single nucleotide polymorphic markers and Y-chromosome markers. The results of the analysis of autosomal SNPs frequencies by various methods, the similarities in the composition of the Y-chromosome haplogroups and YSTR haplotypes indicate that the Khanty gene pool is quite specific. When analyzing autosomal SNPs, the Ugrian genetic component completely dominates in both samples (up to 99–100 %). The samples of the Khanty showed the maximum match in IBD blocks with each other, with a sample of the Kets, Chulyms, Tuvans, Tomsk Tatars, Khakas, Kachins, and Southern Altaians. The degree of coincidence of IBD blocks between the Khanty, Kets, and Tomsk Tatars is consistent with the results of the distribution of allele frequencies and common genetic components in these populations. According to the composition of the Y-chromosome haplogroups, the two samples of the Khanty differ significantly from each other. A detailed phylogenetic analysis of various Y-chromosome haplogroups made it possible to describe and clarify the differences in the phylogeny and structure of individual ethnospecific sublines, to determine their relationship, traces of population expansion in the Khanty gene pool. Variants of different haplogroups of the Y-chromosome in the Khanty, Khakas and Tuvans go back to their common ancestral lines. The results of a comparative analysis of male samples indicate a close genetic relationship between the Khanty and Nenets, Komi, Udmurts and Kets. The specificity of haplotypes, the discovery of various terminal SNPs confirms that the Khanty did not come into contact with other ethnic groups for a long time, except for the Nenets, which included many Khanty clans.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>генофонд</kwd><kwd>популяции человека</kwd><kwd>генетическое разнообразие</kwd><kwd>генетические компоненты</kwd><kwd>Y-хромосома</kwd><kwd>ханты</kwd></kwd-group><kwd-group xml:lang="en"><kwd>gene pool</kwd><kwd>human population</kwd><kwd>genetic diversity</kwd><kwd>genetic components</kwd><kwd>Y-chromosome</kwd><kwd>Khanty</kwd></kwd-group><funding-group xml:lang="en"><funding-statement>The study was supported by the Russian Science Foundation grant No. 22-64-00060 (https://rscf.ru/project/22-64-00060/).</funding-statement></funding-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Alexander D.H., Lange K. 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