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Analysis of Mitochondrial DNA Lineages in Yakuts
Authors:Fedorova  S. A.  Bermisheva  M. A.  Villems  R.  Maksimova  N. R.  Khusnutdinova  E. K.
Affiliation:(1) Yakut Research Center, Russian Academy of Medical Sciences and Government of the Sakha Republic (Yakutia), Yakutsk, 677019, Russia;(2) Institute of Biochemistry and Genetics, Ufa Research Center, Russian Academy of Sciences, Ufa, 540054, Russia;(3) Estonian Biocentre, Tartu, 51010, Estonia
Abstract: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 common genetic substrate of Yakuts, Mongols, and Central Asian (Kazakh, Kyrgyz, Uighur) populations. Yakuts proved to share 21 (55.5%) mtDNA haplotypes with the Central Asian ethnic groups and Mongols. Comparisons with modern Paleoasian 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 Paleoasian contribution to the modern Yakut gene pool.
Keywords:mitochondrial DNA  Yakut gene pool  haplotypes  median networks  phylogenetic analysis
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