Distinguishing three distinct biogeographic regions with an in-house developed 39-AIM-InDel panel and further admixture proportion estimation for Uyghurs
Distinguishing three distinct biogeographic regions with an in-house developed 39-AIM-InDel panel and further admixture proportion estimation for Uyghurs
复制标题
使用内部开发的 39-AIM-InDel 面板区分三个不同的生物地理区域，并进一步估计维吾尔人的混合比例
DOI：
10.1002/elps.201800448
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发表时间：
2019-06-01
期刊：
影响因子：
2.9
通讯作者：
Zhu, Bofeng
中科院分区：
文献类型：
--
作者：
Lan, Qiong;Shen, Chunmei;Zhu, Bofeng
在法医学领域，显示显着等位基因频率差异的祖先信息标记（AIM）可以用于推断一个人可能的祖先起源或估计混合人群或个体的祖先成分比例。双等位基因单核苷酸多态性是一种常用的遗传标记，但单核苷酸多态性的基因分型方法不能满足成本效益和实验操作简单的要求。为了克服这些局限性，在本研究中开发了一个39个祖先信息插入/缺失多态性多重面板，用于对来自三个不同地理区域（非洲，欧洲，东亚）的个体进行祖先分配。在面板设计中，我们还尝试将汉族、维吾尔族和藏族人群中存在等位基因频率差异的AIM插入/缺失多态性纳入多重检测中，进一步期望为中国人群中的祖先推断提供有价值的信息。通过统计分析，估计了该群体对上述三大洲个体的聚类效率，表明该群体在祖先推断方面具有一定的潜力。此外，我们还估计了维吾尔族群体的祖先成分比例，结构分析显示，来自新疆北方乌鲁木齐市的维吾尔族具有明显的东亚和欧洲祖先成分混合模式，比例为49：44，反映了维吾尔族群体基因库中东亚祖先成分的贡献相对较高。
In the forensic field, ancestry-informative markers (AIMs) showing remarkable allele frequency discrepancies can be useful in deducing the likely ancestral origin of a person or estimating the ancestry component proportions of an admixed population or individual. Diallelic single nucleotide polymorphisms are genetic markers commonly used for ancestry inference, but the genotyping methods of single nucleotide polymorphisms fail to fulfil the demands of cost-effectiveness and simplicity of experimental manipulation. To overcome the limitations, a 39 ancestry-informative insertion/deletion polymorphism multiplex panel was developed in the present study to perform ancestry assignment of individuals from three distinct biogeographic regions (Africa, Europe, East Asia). And in the panel design, we also attempted to incorporate AIM-insertion/deletion polymorphisms exhibiting allelic frequency differences in Han, Uyghur, and Tibetan populations into the multiplex assay, further expecting to provide valuable information for refining ancestry inference within Chinese populations. Statistical analyses were performed to estimate efficiency of this panel in clustering individuals from three continents mentioned above into their corresponding populations, which indicated the potential of the panel in ancestry inference. Besides, we also estimated the ancestral component proportions of Uyghur group and STRUCTURE analysis revealed that Uyghurs from Urumchi city of northern Xinjiang exhibited a distinctly admixed pattern of East Asian and European ancestry components with a ratio of 49:44, reflecting the relatively higher East Asian ancestry component contribution in the gene pool of the Uyghur group.