Fedorova S A, Bermisheva M A, Villems R, Maksimova N R, Khusnutdinova E K
Yakut Research Center, Russian Academy of Medical Sciences and Administration of the Sakha Republic (Yakutia), Yakutsk, 677019 Russia.
Mol Biol (Mosk). 2003 Jul-Aug;37(4):643-53.
To study the mitochondrial gene pool structure in Yakuts, polymorphism of mtDNA hypervariable segment I (16,024-16,390) was analyzed in 191 people sampled from the indigenous population of the Sakha Republic. In total, 67 haplotypes of 14 haplogroups were detected. Most (91.6%) haplotypes belonged to haplogroups A, B, C, D, F, G, M*, and Y, which are specific for East Eurasian ethnic groups; 8.4% haplotypes represented Caucasian haplogroups H, HV1, J, T, U, and W. A high frequency of mtDNA types belonging to Asian supercluster M was peculiar for Yakuts: mtDNA types belonging to haplogroup C, D, or G and undifferentiated mtDNA types of haplogroup M (M*) accounted for 81% of all haplotypes. The highest diversity was observed for haplogroups C and D, which comprised respectively 22 (44%) and 18 (30%) haplotypes. Yakuts showed the lowest genetic diversity (H = 0.964) among all Turkic ethnic groups. Phylogenetic analysis testified to a common genetic substrate of Yakuts, Mongols, and Central Asian (Kazakh, Kyrgyz, Uigur) populations. Yakuts proved to share 21 (55.5%) mtDNA haplogroups with the Central Asian ethnic groups and Mongols. Comparisons with modern paleo-Asian populations (Chukcha, Itelmen, Koryaks) revealed three (8.9%) haplotypes common for Yakuts and Koryaks. The results of mtDNA analysis disagree with the hypothesis of an appreciable paleo-Asian contribution to the modern Yakut gene pool.
为研究雅库特人的线粒体基因库结构,对从萨哈共和国原住民中抽取的191人进行了线粒体DNA高变区I(16024 - 16390)的多态性分析。总共检测到14个单倍群的67种单倍型。大多数(91.6%)单倍型属于A、B、C、D、F、G、M和Y单倍群,这些单倍群是东亚欧亚族群所特有的;8.4%的单倍型代表高加索单倍群H、HV1、J、T、U和W。属于亚洲超级单倍群M的线粒体DNA类型在雅库特人中具有高频率:属于C、D或G单倍群的线粒体DNA类型以及未分化的M单倍群(M)的线粒体DNA类型占所有单倍型的81%。观察到C和D单倍群的多样性最高,分别包含22种(44%)和18种(30%)单倍型。在所有突厥族群中,雅库特人的遗传多样性最低(H = 0.964)。系统发育分析证明雅库特人、蒙古人和中亚(哈萨克、吉尔吉斯、维吾尔)人群具有共同的遗传基础。事实证明,雅库特人与中亚族群和蒙古人共享21种(55.5%)线粒体DNA单倍群。与现代古亚细亚人群(楚科奇人、伊捷尔缅人、科里亚克人)的比较揭示了雅库特人和科里亚克人共有的三种(8.9%)单倍型。线粒体DNA分析结果与古亚细亚人对现代雅库特基因库有显著贡献的假设不一致。