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High frequencies of Y-chromosome haplogroup O2b-SRY465 lineages in Korea: a genetic perspective on the peopling of Korea

机译:韩国的Y染色体单倍型O2b-SRY465谱系的高频率:韩国人的遗传观点。

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Background Koreans are generally considered a Northeast Asian group, thought to be related to Altaic-language-speaking populations. However, recent findings have indicated that the peopling of Korea might have been more complex, involving dual origins from both southern and northern parts of East Asia. To understand the male lineage history of Korea, more data from informative genetic markers from Korea and its surrounding regions are necessary. In this study, 25 Y-chromosome single nucleotide polymorphism markers and 17 Y-chromosome short tandem repeat (Y-STR) loci were genotyped in 1,108 males from several populations in East Asia. Results In general, we found East Asian populations to be characterized by male haplogroup homogeneity, showing major Y-chromosomal expansions of haplogroup O-M175 lineages. Interestingly, a high frequency (31.4%) of haplogroup O2b-SRY465 (and its sublineage) is characteristic of male Koreans, whereas the haplogroup distribution elsewhere in East Asian populations is patchy. The ages of the haplogroup O2b-SRY465 lineages (~9,900 years) and the pattern of variation within the lineages suggested an ancient origin in a nearby part of northeastern Asia, followed by an expansion in the vicinity of the Korean Peninsula. In addition, the coalescence time (~4,400 years) for the age of haplogroup O2b1-47z, and its Y-STR diversity, suggest that this lineage probably originated in Korea. Further studies with sufficiently large sample sizes to cover the vast East Asian region and using genomewide genotyping should provide further insights. Conclusions These findings are consistent with linguistic, archaeological and historical evidence, which suggest that the direct ancestors of Koreans were proto-Koreans who inhabited the northeastern region of China and the Korean Peninsula during the Neolithic (8,000-1,000 BC) and Bronze (1,500-400 BC) Ages.
机译:背景技术韩国人通常被认为是东北亚族群,被认为与讲阿尔泰语的人群有关。但是,最近的发现表明,朝鲜的人种可能更为复杂,涉及东亚南部和北部的双重起源。为了了解韩国的男性血统史,需要来自韩国及其周边地区的信息丰富的遗传标记提供更多数据。在这项研究中,对来自东亚多个人群的1108名男性的25个Y染色体单核苷酸多态性标记和17个Y染色体短串联重复(Y-STR)基因座进行了基因分型。结果总体上,我们发现东亚人群具有男性单倍群同质性的特征,显示出单倍群O-M175谱系的主要Y染色体扩增。有趣的是,高频率(31.4%)的单倍型O2b-SRY465(及其亚系)是男性韩国人的特征,而在东亚人口中其他地方的单倍型分布是零散的。单倍型O2b-SRY465谱系的年龄(〜9,900年)和谱系中的变异模式表明其起源于东北亚附近地区,其后在朝鲜半岛附近扩展。另外,单倍型O2b1-47z年龄的合并时间(〜4,400年)及其Y-STR多样性表明该谱系可能起源于韩国。使用足够大的样本量来覆盖广阔的东亚地区并使用全基因组基因分型的进一步研究应提供进一步的见解。结论这些发现与语言,考古和历史证据一致,表明朝鲜人的直接祖先是新石器时代(公元前8,000-1,000年)和青铜时代(公元1,500-1500年)居住在中国东北地区和朝鲜半岛的原始朝鲜人。公元前400年)

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