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白俄罗斯东南部线粒体基因库的异质性。

Heterogeneity of the Southeast Belarusian mitochondrial gene pool.

作者信息

Malyarchuk Boris, Denisova Galina, Litvinov Andrey

机构信息

Institute of Biological Problems of the North, Russian Academy of Sciences, Magadan, Russia.

出版信息

J Hum Genet. 2025 Jun;70(6):313-320. doi: 10.1038/s10038-025-01337-x. Epub 2025 Apr 7.

Abstract

The study of mitochondrial DNA (mtDNA) variability at the level of whole mitogenomes has significant implications for the fields of human evolution and population genetics. In this paper, we present the results of a study of the complete mtDNA variability in Belarusians from the southeastern part of the Republic of Belarus. It was found that Southeast Belarusians are characterized by a high diversity of mitochondrial genomes. The analysis of genetic distances between European populations showed significant differences between the studied Belarusian sample from the bulk of East European populations, including Slavic ethnic groups. The results of the phylogeographic analysis indicated the presence of the West Asian component (12.6%) in the Belarusian mitochondrial gene pool, which can account for the observed genetic differences between Belarusians and other Eastern Slavs (Russians and Ukrainians). The East Asian component of the mitochondrial gene pool of the studied group of Belarusians is represented by haplogroup C5c1a (2.3%). The results of the phylogeographic analysis indicated that this mtDNA subclade is predominantly present in the gene pools of Slavic peoples, including Poles, Belarusians, Ukrainians, and Russians. The evolutionary age of haplogroup C5c1a is ~4000 years and, consequently, the appearance of C5c1-haplotypes in the eastern regions of Europe may be linked to the migrations of the Caspian steppe populations to the west during the Bronze Age.

摘要

在整个线粒体基因组水平上对线粒体DNA(mtDNA)变异性的研究,对人类进化和群体遗传学领域具有重要意义。在本文中,我们展示了对白俄罗斯共和国东南部白俄罗斯人完整mtDNA变异性的研究结果。研究发现,白俄罗斯东南部人群的特点是线粒体基因组具有高度多样性。对欧洲各群体之间遗传距离的分析表明,所研究的白俄罗斯样本与包括斯拉夫族群在内的大多数东欧群体之间存在显著差异。系统发育地理分析结果表明,白俄罗斯人的线粒体基因库中存在西亚成分(12.6%),这可以解释白俄罗斯人与其他东斯拉夫人(俄罗斯人和乌克兰人)之间观察到的遗传差异。所研究的白俄罗斯人群体线粒体基因库中的东亚成分由单倍群C5c1a(2.3%)代表。系统发育地理分析结果表明,这个mtDNA亚分支主要存在于斯拉夫民族的基因库中,包括波兰人、白俄罗斯人、乌克兰人和俄罗斯人。单倍群C5c1a的进化年龄约为4000年,因此,C5c单倍型在欧洲东部地区的出现可能与青铜时代里海草原人群向西迁移有关。

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