Derenko M V, Grzybowski T, Malyarchuk B A, Dambueva I K, Denisova G A, Czarny J, Dorzhu C M, Kakpakov V T, Miścicka-Sliwka D, Woźniak M, Zakharov I A
Genetics Laboratory, Institute of Biological Problems of the North, Russian Academy of Sciences, Portovaya str. 18, 685000 Magadan, Russia.
Ann Hum Genet. 2003 Sep;67(Pt 5):391-411. doi: 10.1046/j.1469-1809.2003.00035.x.
To investigate the origin and evolution of aboriginal populations of South Siberia, a comprehensive mitochondrial DNA (mtDNA) analysis (HVR1 sequencing combined with RFLP typing) of 480 individuals, representing seven Altaic-speaking populations (Altaians, Khakassians, Buryats, Sojots, Tuvinians, Todjins and Tofalars), was performed. Additionally, HVR2 sequence information was obtained for 110 Altaians, providing, in particular, some novel details of the East Asian mtDNA phylogeny. The total sample revealed 81% East Asian (M*, M7, M8, M9, M10, C, D, G, Z, A, B, F, N9a, Y) and 17% West Eurasian (H, U, J, T, I, N1a, X) matrilineal genetic contribution, but with regional differences within South Siberia. The highest influx of West Eurasian mtDNAs was observed in populations from the East Sayan and Altai regions (from 12.5% to 34.5%), whereas in populations from the Baikal region this contribution was markedly lower (less than 10%). The considerable substructure within South Siberian haplogroups B, F, and G, together with the high degree of haplogroup C and D diversity revealed there, allows us to conclude that South Siberians carry the genetic imprint of early-colonization phase of Eurasia. Statistical analyses revealed that South Siberian populations contain high levels of mtDNA diversity and high heterogeneity of mtDNA sequences among populations (Fst = 5.05%) that might be due to geography but not due to language and anthropological features.
为了研究南西伯利亚原住民群体的起源与演化，我们对代表七个阿尔泰语系群体（阿尔泰人、哈卡斯人、布里亚特人、索约特人、图瓦人、托金人和托法拉尔人）的480名个体进行了全面的线粒体DNA（mtDNA）分析（HVR1测序结合RFLP分型）。此外，还获得了110名阿尔泰人的HVR2序列信息，特别提供了一些关于东亚mtDNA系统发育的新细节。总体样本显示，母系遗传贡献中81%为东亚类型（M*、M7、M8、M9、M10、C、D、G、Z、A、B、F、N9a、Y），17%为西欧亚类型（H、U、J、T、I、N1a、X），但南西伯利亚内部存在区域差异。在东萨彦岭和阿尔泰地区的群体中观察到西欧亚mtDNA的流入量最高（从12.5%到34.5%），而在贝加尔湖地区的群体中，这种贡献明显较低（低于10%）。南西伯利亚单倍群B、F和G内存在显著的亚结构，以及在那里发现的高程度的单倍群C和D多样性，使我们能够得出结论，南西伯利亚人携带着欧亚大陆早期殖民阶段的遗传印记。统计分析表明，南西伯利亚群体的mtDNA多样性水平较高，群体间mtDNA序列的异质性也较高（Fst = 5.05%），这可能是由于地理因素而非语言和人类学特征所致。
