Malyarchuk Boris, Derenko Miroslava, Grzybowski Tomasz, Lunkina Arina, Czarny Jakub, Rychkov Serge, Morozova Irina, Denisova Galina, Miścicka-Sliwka Danuta
Genetics Laboratory, Institute of Biological Problems of the North, Far-East Branch of the Russian Academy of Sciences, Magadan 685000, Russia.
Hum Biol. 2004 Dec;76(6):877-900. doi: 10.1353/hub.2005.0021.
The genetic composition of the Russian population was investigated by analyzing both mitochondrial DNA (mtDNA) and Y-chromosome loci polymorphisms that allow for the different components of a population gene pool to be studied, depending on the mode of DNA marker inheritance. mtDNA sequence variation was examined by using hypervariable segment I (HVSI) sequencing and restriction analysis of the haplogroup-specific sites in 325 individuals representing 5 Russian populations from the European part of Russia. The Y-chromosome variation was investigated in 338 individuals from 8 Russian populations (including 5 populations analyzed for mtDNA variation) using 12 binary markers. For both uniparental systems most of the observed haplogroups fell into major West Eurasian haplogroups (97.9% and 99.7% for mtDNA and Y-chromosome haplogroups, respectively). Multidimensional scaling analysis based on pairwise F(ST) values between mtDNA HVSI sequences in Russians compared to other European populations revealed a considerable heterogeneity of Russian populations; populations from the southern and western parts of Russia are separated from eastern and northern populations. Meanwhile, the multidimensional scaling analysis based on Y-chromosome haplogroup F(ST) values demonstrates that the Russian gene pool is close to central-eastern European populations, with a much higher similarity to the Baltic and Finno-Ugric male pools from northern European Russia. This discrepancy in the depth of penetration of mtDNA and Y-chromosome lineages characteristic for the most southwestern Russian populations into the east and north of eastern Europe appears to indicate that Russian colonization of the northeastern territories might have been accomplished mainly by males rather than by females.
通过分析线粒体DNA（mtDNA）和Y染色体基因座多态性来研究俄罗斯人群的基因组成，这两种多态性能够根据DNA标记的遗传模式对人群基因库的不同组成部分进行研究。采用高变区I（HVSI）测序和对来自俄罗斯欧洲部分5个俄罗斯人群的325名个体的单倍群特异性位点进行限制性分析，来检测mtDNA序列变异。使用12个二元标记，对来自8个俄罗斯人群（包括5个已分析mtDNA变异的人群）的338名个体进行Y染色体变异研究。对于这两种单亲遗传系统，观察到的大多数单倍群都属于主要的西欧亚单倍群（mtDNA和Y染色体单倍群分别为97.9%和99.7%）。基于俄罗斯人与其他欧洲人群mtDNA HVSI序列之间的成对F(ST)值进行的多维尺度分析显示，俄罗斯人群存在相当大的异质性；俄罗斯南部和西部的人群与东部和北部的人群分开。同时，基于Y染色体单倍群F(ST)值的多维尺度分析表明，俄罗斯基因库与中东欧人群接近，与俄罗斯北欧地区的波罗的海和芬兰-乌戈尔男性基因库更为相似。俄罗斯最西南部人群的mtDNA和Y染色体谱系向欧洲东部和北部渗透深度的这种差异似乎表明，俄罗斯对东北部领土的殖民可能主要是由男性而非女性完成的。
