Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark; Faculty of Criminal Science and Technology, Xinjiang Police College, People's Republic of China.
Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark.
Forensic Sci Int Genet. 2019 Nov;43:102144. doi: 10.1016/j.fsigen.2019.102144. Epub 2019 Aug 16.
Autosomal ancestry informative markers (AIMs) are important markers for inferring ancestry of humans. In the present study, we typed 105 Uyghurs and 94 Kazakhs with the Precision ID Ancestry Panel that amplifies 165 autosomal AIMs. No statistically significant deviation from Hardy-Weinberg equilibrium and no linkage disequilibrium between loci was observed after Bonferroni correction. STRUCTURE and PCA analyses showed that Uyghurs and Kazakhs appeared as admixed individuals of primarily European and East Asian ancestry and were clearly differentiated from Europeans, Middle Easterners, South/Central Asians, and East Asians. However, it was not possible to differentiate the two populations from each other and they were also difficult to differentiate from Greenlanders, a population with European/Inuit admixture. GenoGeographer was used to evaluate the weight of the evidence. Initially, the results showed that the majority of AIM profiles from Uyghur and Kazakh individuals were not represented by any of the 36 reference populations of the GenoGeographer database. Consequently, it was not reasonable to infer the ancestry of these individuals. A randomly selected subset of the studied populations (75 Uyghur and 75 Kazakh individuals) was used to construct two new reference populations for GenoGeographer, and ancestry prediction was performed on the remaining test individuals. A total of 42 out of 49 test individuals were represented by at least one population after the introduction of Uyghur and Kazakh reference populations. Likelihood ratios ≥10 were obtained when the alternative hypothesis was that the individual belonged to the South/Central Asian, East Asian, Middle Eastern, European, or the admixed Greenlandic population.
常染色体祖先信息标记（AIMs）是推断人类祖先的重要标记。在本研究中，我们使用 Precision ID Ancestry Panel 对 105 名维吾尔族人和 94 名哈萨克族人进行了基因分型，该面板扩增了 165 个常染色体 AIMs。经过 Bonferroni 校正后，没有观察到任何与 Hardy-Weinberg 平衡的统计学显著偏差，也没有观察到位点之间的连锁不平衡。STRUCTURE 和 PCA 分析表明，维吾尔族人和哈萨克族人表现为主要欧洲和东亚祖先的混合个体，与欧洲人、中东人、南亚/中亚人和东亚人明显不同。然而，无法区分这两个群体，也很难将它们与具有欧洲/因纽特混合血统的格陵兰人区分开来。GenoGeographer 用于评估证据的权重。最初，结果表明，大多数维吾尔族和哈萨克族个体的 AIM 谱都没有被 GenoGeographer 数据库的 36 个参考群体中的任何一个所代表。因此，推断这些个体的祖先并不合理。从研究人群中随机选择的一部分（75 名维吾尔族人和 75 名哈萨克族人）用于为 GenoGeographer 构建两个新的参考群体，并对其余测试个体进行了祖先预测。在引入维吾尔族和哈萨克族参考群体后，共有 42 名测试个体中的 49 名至少被一个群体代表。当替代假设是个体属于南亚/中亚、东亚、中东、欧洲或混合的格陵兰人口时，获得的似然比≥10。
