Malyarchuk Boris, Litvinov Andrey, Derenko Miroslava, Skonieczna Katarzyna, Grzybowski Tomasz, Grosheva Aleksandra, Shneider Yuri, Rychkov Sergei, Zhukova Olga
Institute of Biological Problems of the North, Far-East Branch of the Russian Academy of Sciences, Portovaya Street 18, Magadan 685000, Russia.
Institute of Biological Problems of the North, Far-East Branch of the Russian Academy of Sciences, Portovaya Street 18, Magadan 685000, Russia.
Forensic Sci Int Genet. 2017 Sep;30:51-56. doi: 10.1016/j.fsigen.2017.06.003. Epub 2017 Jun 15.
Complete mtDNA genome sequencing improves molecular resolution for distinguishing variation between individuals and populations, but there is still deficiency of mitogenomic population data. To overcome this limitation, we used Sanger-based protocol to generate complete mtDNA sequences of 376 Russian individuals from six populations of European part of Russia and 100 Polish individuals from northern Poland. Nearly complete resolution of mtDNA haplotypes was achieved - about 97% of haplotypes were unique both in Russians and Poles, and no haplotypes overlapped between them when indels were considered. While European populations showed a low, but statistically significant level of between-population differentiation (Fst=0.66%, p=0), Russians demonstrate lack of between-population differences (Fst=0.22%, p=0.15). Results of the Bayesian skyline analysis of Russian mitogenomes demonstrate not only post-Last Glacial Maximum expansion, but also rapid population growth starting from about 4.3kya (95% CI: 2.9-5.8kya), i.e. in the Bronze Age. This expansion strongly correlates with the Kurgan model established by archaeologists and confirmed by paleogeneticists.
完整的线粒体DNA基因组测序提高了区分个体和群体间变异的分子分辨率,但线粒体基因组群体数据仍存在不足。为克服这一限制,我们采用基于桑格测序法的方案,生成了来自俄罗斯欧洲部分六个群体的376名俄罗斯个体以及来自波兰北部的100名波兰个体的完整线粒体DNA序列。线粒体DNA单倍型几乎完全解析——俄罗斯人和波兰人中约97%的单倍型是独特的,当考虑插入缺失时,他们之间没有单倍型重叠。虽然欧洲群体显示出较低但具有统计学意义的群体间分化水平(Fst = 0.66%,p = 0),但俄罗斯人表现出群体间无差异(Fst = 0.22%,p = 0.15)。俄罗斯线粒体基因组的贝叶斯天际线分析结果不仅显示了末次盛冰期后的扩张,还显示了从约4300年前(95%可信区间:2900 - 5800年前)开始的快速人口增长,即青铜器时代。这种扩张与考古学家建立并得到古遗传学家证实的库尔干模型密切相关。