Kharkov V N, Kolesnikov N A, Valikhova L V, Zarubin A A, Sukhomyasova A L, Khitrinskaya I Yu, Stepanov V A
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences, Tomsk, Russia.
M.K. Ammosov North-Eastern Federal University, Yakutsk, Russia.
Vavilovskii Zhurnal Genet Selektsii. 2024 Oct;28(6):659-666. doi: 10.18699/vjgb-24-73.
The Nivkhs are a small ethnic group indigenous of the Russian Far East, living in the Khabarovsk Territory and on Sakhalin Island, descending from the ancient inhabitants of these territories. In the Nivkhs, a specific Sakhalin-Amur anthropological type is prevalent. They are quite isolated, due to long isolation from contacts with other peoples. The gene pool of the Nivkhs and other Far Eastern and Siberian populations was characterized using a genome-wide panel of autosomal single-nucleotide polymorphic markers and Y chromosome haplogroups. Bioinformatic processing of frequencies of autosomal SNPs, Y chromosome haplogroups and YSTR haplotypes showed that the Nivkh gene pool is very different from the other populations'. Analysis of the SNP frequencies using the PCA method divided the Far Eastern populations in full accordance with the territories of their residence into the northern group of the Chukchi and Koryaks and the southern group, including the Nivkhs and Udege. The remoteness of the Nivkhs coincides with their geographic localization, with the Nivkhs and Udege demonstrating the greatest kinship. The Nivkhs have a specific component of their gene pool, which is present with much less frequency in the Udege and Transbaikal Evenks. According to the IBD blocks, the genotypes of the Nivkhs show a very small percentage of coincidence with the Udege, Koryaks, Evenks and Chukchi, the value of which is the lowest compared to the IBD blocks among all other Siberian populations. The Nivkh-specific composition of haplogroups and YSTR haplotypes was shown. In the Nivkhs, the C2a1 haplogroup is divided into three sublines, which have a fairly ancient origin and are associated with the ancestors of modern northern Mongoloids. The Nivkh haplogroup O2a1b1a2a-F238 is found among residents of China and Myanmar. The Q1a1a1-M120 line is represented among the Nivkhs, Koryaks, Evenks and Yukaghirs. Phylogenetic analysis of individual Y chromosomal haplogroups demonstrated the closeness of the Nivkh gene pool with the ancient population of the Amur and Okhotsk regions, the Koryaks, the Tungus peoples and the population of Southeast Asia. The Nivkh gene pool confirms the relative smallness of their ancestral groups without mixing with other populations.
尼夫赫人是俄罗斯远东地区的一个小民族，居住在哈巴罗夫斯克边疆区和萨哈林岛，是这些地区古代居民的后裔。在尼夫赫人中，一种特定的萨哈林-阿穆尔人类学类型很普遍。由于长期与其他民族隔绝，他们相当孤立。利用全基因组常染色体单核苷酸多态性标记和Y染色体单倍群对尼夫赫人以及其他远东和西伯利亚人群的基因库进行了特征分析。对常染色体单核苷酸多态性、Y染色体单倍群和Y-STR单倍型频率的生物信息学处理表明，尼夫赫人的基因库与其他人群有很大不同。使用主成分分析（PCA）方法对单核苷酸多态性频率进行分析，根据居住地域将远东人群完全分为两组，即楚科奇人和科里亚克人的北方组，以及包括尼夫赫人和乌德盖人的南方组。尼夫赫人的偏远位置与其地理定位相符，尼夫赫人和乌德盖人表现出最大的亲缘关系。尼夫赫人的基因库有一个特定成分，在乌德盖人和外贝加尔埃文基人中出现的频率要低得多。根据同源染色体片段（IBD）分析显示，尼夫赫人的基因型与乌德盖人、科里亚克人、埃文基人和楚科奇人的重合率非常低，与所有其他西伯利亚人群相比，这个值是最低的。研究展示了尼夫赫人特有的单倍群和Y-STR单倍型组成。在尼夫赫人中，C2a1单倍群分为三个亚系，它们有相当古老的起源，并且与现代北方蒙古人种的祖先有关。尼夫赫人的O2a1b1a2a-F238单倍群在中国和缅甸居民中也有发现。Q1a1a1-M120谱系存在于尼夫赫人、科里亚克人、埃文基人和尤卡吉尔人中。对单个Y染色体单倍群的系统发育分析表明，尼夫赫人的基因库与阿穆尔河和鄂霍次克地区的古代人群、科里亚克人、通古斯人以及东南亚人群关系密切。尼夫赫人的基因库证实了其祖先群体相对较小，且未与其他人群混合。
