Balanovsky Oleg, Rootsi Siiri, Pshenichnov Andrey, Kivisild Toomas, Churnosov Michail, Evseeva Irina, Pocheshkhova Elvira, Boldyreva Margarita, Yankovsky Nikolay, Balanovska Elena, Villems Richard
Research Centre for Medical Genetics, Russian Academy of Medical Sciences, 115478 Moscow, Russia.
Am J Hum Genet. 2008 Jan;82(1):236-50. doi: 10.1016/j.ajhg.2007.09.019.
Progress in the mapping of population genetic substructure provides a core source of data for the reconstruction of the demographic history of our species and for the discovery of common signals relevant to disease research: These two aspects of enquiry overlap in their empirical data content and are especially informative at continental and subcontinental levels. In the present study of the variation of the Y chromosome pool of ethnic Russians, we show that the patrilineages within the pre-Ivan the Terrible historic borders of Russia have two main distinct sources. One of these antedates the linguistic split between West and East Slavonic-speaking people and is common for the two groups; the other is genetically highlighted by the pre-eminence of haplogroup (hg) N3 and is most parsimoniously explained by extensive assimilation of (or language change in) northeastern indigenous Finno-Ugric tribes. Although hg N3 is common for both East European and Siberian Y chromosomes, other typically Siberian or Mongolian hgs (Q and C) have negligible influence within the studied Russian Y chromosome pool. The distribution of all frequent Y chromosome haplogroups (which account for 95% of the Y chromosomal spectrum in Russians) follows a similar north-south clinal pattern among autosomal markers, apparent from synthetic maps. Multidimensional scaling (MDS) plots comparing intra ethnic and interethnic variation of Y chromosome in Europe show that although well detectable, intraethnic variation signals do not cross interethnic borders, except between Poles, Ukrainians, and central-southern Russians, thereby revealing their overwhelmingly shared patrilineal ancestry.
这两个研究方面在实证数据内容上相互重叠，并且在大陆和次大陆层面尤其具有参考价值。在目前对俄罗斯族裔Y染色体库变异的研究中，我们发现，在伊凡雷帝之前的俄罗斯历史边界内的父系谱系有两个主要不同来源。其中一个早于西斯拉夫语族和东斯拉夫语族之间的语言分化，并且是这两个群体所共有的；另一个在遗传上以单倍群（hg）N3的优势为特征，最合理的解释是东北本土芬兰 - 乌戈尔部落的广泛同化（或语言变化）。尽管hg N3在东欧和西伯利亚的Y染色体中都很常见，但其他典型的西伯利亚或蒙古单倍群（Q和C）在所研究的俄罗斯Y染色体库中的影响可以忽略不计。所有常见Y染色体单倍群（占俄罗斯人Y染色体谱系的95%）的分布在常染色体标记中呈现出类似的南北渐变模式，这从合成地图中可以明显看出。比较欧洲Y染色体族内和族间变异的多维尺度分析（MDS）图显示，尽管族内变异信号可以很好地检测到，但除了波兰人、乌克兰人和俄罗斯中南部人之间，族内变异信号不会跨越族间边界，从而揭示了他们绝大多数共享的父系祖先。
