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根据常染色体位点和Y染色体多态性数据,汉特人的基因库与西西伯利亚、乌拉尔山脉以西地区以及阿尔泰山-萨彦岭地区各民族的关系。

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.

作者信息

Kharkov V N, Kolesnikov N A, Valikhova L V, Zarubin A A, Svarovskaya M G, Marusin A V, Khitrinskaya I Yu, Stepanov V A

机构信息

Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.

出版信息

Vavilovskii Zhurnal Genet Selektsii. 2023 Mar;27(1):46-54. doi: 10.18699/VJGB-23-07.

Abstract

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.

摘要

汉特人是生活在西西伯利亚地区的西伯利亚原住民,主要分布在汉特-曼西自治区和亚马尔-涅涅茨自治区境内。本研究旨在全面分析汉特人的基因库结构,并将其与西西伯利亚和南西伯利亚其他原住民群体进行比较。为解决汉特人与其他原住民群体的基因亲缘关系问题,我们使用高密度生物芯片对大量常染色体标记的基因组进行基因分型,并对不同民族群体(哈卡斯人、图瓦人、南阿尔泰人、西伯利亚鞑靼人、楚利姆人(突厥语族)和凯特人(叶尼塞语系))的Y染色体上一组扩展的单核苷酸多态性(SNP)和短串联重复序列(STR)标记进行了分析。我们利用全基因组常染色体单核苷酸多态性标记和Y染色体标记研究了汉特人以及其他西西伯利亚和南西伯利亚群体的基因库结构。通过各种方法对常染色体SNP频率的分析结果、Y染色体单倍群和YSTR单倍型组成的相似性表明,汉特人的基因库相当独特。在分析常染色体SNP时,乌戈尔遗传成分在两个样本中均占主导地位(高达99%-100%)。汉特人的样本在同源染色体片段(IBD)上彼此之间以及与凯特人、楚利姆人、图瓦人、托木斯克鞑靼人、哈卡斯人、克钦人及南阿尔泰人的样本匹配度最高。汉特人、凯特人和托木斯克鞑靼人之间IBD片段的重合程度与这些群体中等位基因频率分布和共同遗传成分的结果一致。根据Y染色体单倍群的组成,汉特人的两个样本彼此之间存在显著差异。对各种Y染色体单倍群进行详细的系统发育分析,有助于描述和阐明各民族特异性亚系在系统发育和结构上的差异,确定它们之间的关系以及汉特人基因库中的群体扩张痕迹。汉特人、哈卡斯人和图瓦人Y染色体不同单倍群的变体可追溯到其共同的祖先谱系。对男性样本的比较分析结果表明,汉特人与涅涅茨人、科米人、乌德穆尔特人和凯特人之间存在密切的遗传关系。单倍型的特异性以及各种末端SNP的发现证实,除了包含许多汉特氏族的涅涅茨人外,汉特人在很长一段时间内未与其他民族接触。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b116/10009483/e67439ff9cf9/VJGB-27-2307-Fig1.jpg

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