The mtDNA composition of Uzbekistan: a microcosm of Central Asian patterns
The mtDNA composition of Uzbekistan: a microcosm of Central Asian patterns
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DOI：
10.1007/s00414-009-0406-z
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发表时间：
2010-05-01
影响因子：
2.1
通讯作者：
Parsons, Thomas J.
中科院分区：
文献类型：
--
作者：
Irwin, Jodi A.;Ikramov, Abror;Parsons, Thomas J.
为了更好地表征和了解中亚地区 mtDNA 群体遗传学，对来自乌兹别克斯坦的 1,500 多名个体的 mtDNA 控制区域进行了测序。尽管所有样本均来自居住在乌兹别克斯坦的个体，但也包括来自邻近中亚国家的直系血统个体。乌兹别克血统的个体代表乌兹别克斯坦的五个不同地理区域：费尔干纳、卡拉卡尔帕克斯坦、花拉子模、卡什卡达里亚和塔什干。邻近国家有直系血统的人来自哈萨克斯坦、吉尔吉斯斯坦、俄罗斯、阿富汗、土库曼斯坦和塔吉克斯坦。我们的数据强化了中亚人群中具有经典、线粒体DNA和Y染色体标记的独特临床模式的证据。我们的数据还揭示了近期人口事件的特征。尽管目前地理上非常接近，但具有邻国血统的人群几乎没有表现出混合的迹象，并且保留了其来源人群的主要线粒体DNA模式。乌兹别克斯坦各民族之间的遗传距离和单倍群分布更能表明其来源群体之间存在广泛的东西向谱系，而不是它们彼此之间相对较小的地理距离。鉴于检测到显着的 mtDNA 异质性，我们的结果强调，在像中亚这样历史丰富且遗传多样化的地区对 mtDNA 数据进行法医解释时需要更加谨慎。
In order to better characterize and understand the mtDNA population genetics of Central Asia, the mtDNA control regions of over 1,500 individuals from Uzbekistan have been sequenced. Although all samples were obtained from individuals residing in Uzbekistan, individuals with direct ancestry from neighboring Central Asian countries are included. Individuals of Uzbek ancestry represent five distinct geographic regions of Uzbekistan: Fergana, Karakalpakstan, Khorezm, Qashkadarya, and Tashkent. Individuals with direct ancestry in nearby countries originate from Kazakhstan, Kyrgyzstan, Russia, Afghanistan, Turkmenistan, and Tajikistan. Our data reinforce the evidence of distinct clinal patterns that have been described among Central Asian populations with classical, mtDNA, and Y-chromosomal markers. Our data also reveal hallmarks of recent demographic events. Despite their current close geographic proximity, the populations with ancestry in neighboring countries show little sign of admixture and retain the primary mtDNA patterns of their source populations. The genetic distances and haplogroup distributions among the ethnic populations are more indicative of a broad east-west cline among their source populations than of their relatively small geographic distances from one another in Uzbekistan. Given the significant mtDNA heterogeneity detected, our results emphasize the need for heightened caution in the forensic interpretation of mtDNA data in regions as historically rich and genetically diverse as Central Asia.