Analysis of genomic admixture in Uyghur and its implication in mapping strategy
Analysis of genomic admixture in Uyghur and its implication in mapping strategy
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维吾尔族基因组混合分析及其在作图策略中的意义
DOI：
10.1016/j.ajhg.2008.01.017
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发表时间：
2008-04-01
影响因子：
9.8
通讯作者：
Jin, Li
中科院分区：
文献类型：
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作者：
Xu, Shuhua;Huang, Wei;Jin, Li
新疆维吾尔族是一个典型的东西方人体测量学特征的混合体。我们通过使用几乎跨越整个21号染色体的20，177个SNPS，在群体水平、个体水平和染色体水平上剖析了其基因组结构。结果表明，UIG是由双向混合形成的，其中60%来自欧洲，40%来自东亚。在共同等位基因方面，UIG的总体连锁不平衡（LD）与其在东亚和欧洲的亲本群体中的相似，并且当使用祖先信息标记（AIMs）时，UIG仅在500 kb内表现出LD升高，且水平为0.1 < r（2）< 0.8。来自东亚和欧洲祖先的染色体片段的大小分别为2.4 cM和4.1 cM。LD的大小和不完整的祖先染色体片段都表明维吾尔语的历史悠久。在混合隔离（HI）模型的假设下，我们估计UIG的混合事件发生在大约126 [107类似于146]代前，或2520 [2140类似于2920]年前，假设每代20年。尽管维吾尔族的历史悠久，LD较短，与最近的混合人群，如非洲裔美国人的人口相比，我们认为，混合LD（MALD）的映射仍然适用于维吾尔族人口，但类似的10倍AIM是必要的全基因组扫描。
The Uyghur (UIG) population, settled in Xinjiang, China, is a population presenting a typical admixture of Eastern and Western anthropometric traits. We dissected its genomic structure at population level, individual level, and chromosome level by using 20,177 SNPS spanning nearly the entire chromosome 21. Our results showed that UIG was formed by two-way admixture, with 60% European ancestry and 40% East Asian ancestry. Overall linkage disequilibrium (LD) in UIG was similar to that in its parental populations represented in East Asia and Europe with regard to common alleles, and UIG manifested elevation of LD only within 500 kb and at a level of 0.1 < r(2) < 0.8 when ancestry-informative markers (AIMs) were used. The size of chromosomal segments that were derived from East Asian and European ancestries averaged 2.4 cM and 4.1 cM, respectively. Both the magnitude of LD and fragmentary ancestral chromosome segments indicated a long history of Uyghur. Under the assumption of a hybrid isolation (HI) model, we estimated that the admixture event of UIG occurred about 126 [107 similar to 146] generations ago, or 2520 [2140 similar to 2920] years ago assuming 20 years per generation. In spite of the long history and short LD of Uyghur compared with recent admixture populations such as the African-American population, we suggest that mapping by admixture LD (MALD) is still applicable in the Uyghur population but similar to 10-fold AIMs are necessary for a whole-genome scan.