PLOS ONE2013-11-01 7:12 AM

Afghan Hindu Kush: Where Eurasian Sub-Continent Gene Flows Converge 阿富汗兴都库什:欧亚次大陆基因交汇之地

Abstract Despite being located at the crossroads of Asia, genetics of the Afghanistan populations have been largely overlooked. It is currently inhabited by five major ethnic populations: Pashtun, Tajik, Hazara, Uzbek and Turkmen. Here we present autosomal from a subset of our samples, mitochondrial and Y- chromosome data from over 500 Afghan samples among these 5 ethnic groups. This Afghan data was supplemented with the same Y-chromosome analyses of samples from Iran, Kyrgyzstan, Mongolia and updated Pakistani samples (HGDP-CEPH). The data presented here was integrated into existing knowledge of pan-Eurasian genetic diversity. The pattern of genetic variation, revealed by structure-like and Principal Component analyses and Analysis of Molecular Variance indicates that the people of Afghanistan are made up of a mosaic of components representing various geographic regions of Eurasian ancestry. The absence of a major Central Asian-specific component indicates that the Hindu Kush, like the gene pool of Central Asian populations in general, is a confluence of gene flows rather than a source of distinctly autochthonous populations that have arisen in situ: a conclusion that is reinforced by the phylogeography of both haploid loci. 论文摘要 阿富汗尽管身处亚洲要塞,有关它的人口基因研究却一直未得到足够重视。 它现由五个主要少数民族人口组成:普什图族,塔吉克族,哈扎拉族,乌兹别克族和土库曼族。在这里我们展示了部分样本中的常染色体以及属于五百多个抽取自五个主要少数民族的阿富汗人口样本的线粒体和Y染色体数据。除这些阿富汗人口数据之外,我们还随同附上了采自伊朗,吉尔吉斯斯坦,蒙古和新巴基斯坦人口样本的对同样Y-染色体所做的分析(CEPH之人类基因多样性计划)作为补充。我们在这里展示的数据已被纳入现有的有关泛欧亚基因多样性的研究知识中。通过类似结构和主要成分分析以及分子变异分析所揭示的基因变异的模式表明阿富汗人口是由来自于不同地理区域的欧亚人类家系繁衍而来的各色人种组成的大杂烩。类似于中亚大陆人口基因库的人种分布情况,兴都库什的人口组成中未发现由中亚大陆某些特定人种组成其主力军的情形。这一现象表明,与其说兴都库什是只属于某些特定人种历代据此繁衍的本地部落,不如说它更像是各色基因互相交融的集汇之都:有关两种单倍体位点的系统地理学都有力捍卫了这一结论。

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