Li Cai-Xia, Pakstis Andrew J, Jiang Li, Wei Yi-Liang, Sun Qi-Fan, Wu Hong, Bulbul Ozlem, Wang Ping, Kang Long-Li, Kidd Judith R, Kidd Kenneth K
Key Laboratory of Forensic Genetics, Beijing Engineering Research Center of Crime Scene Evidence Examination, Institute of Forensic Science, Beijing 100038, PR China; Department of Genetics, Yale University School of Medicine, New Haven, CT 06520 USA, USA.
Department of Genetics, Yale University School of Medicine, New Haven, CT 06520 USA, USA.
Forensic Sci Int Genet. 2016 Jul;23:101-110. doi: 10.1016/j.fsigen.2016.04.002. Epub 2016 Apr 4.
Many ancestry informative SNP (AISNP) panels have been published. Ancestry resolution in them varies from three to eight continental clusters of populations depending on the panel used. However, none of these panels differentiates well among East Asian populations. To meet this need, we have developed a 74 AISNP panel after analyzing a much larger number of SNPs for Fst and allele frequency differences between two geographically close population groups within East Asia. The 74 AISNP panel can now distinguish at least 10 biogeographic groups of populations globally: Sub-Saharan Africa, North Africa, Europe, Southwest Asia, South Asia, North Asia, East Asia, Southeast Asia, Pacific and Americas. Compared with our previous 55-AISNP panel, Southeast Asia and North Asia are two newly assignable clusters. For individual ancestry assignment, the likelihood ratio and ancestry components were analyzed on a different set of 500 test individuals from 11 populations. All individuals from five of the test populations - Yoruba (YRI), European (CEU), Han Chinese in Henan (CHNH), Rondonian Surui (SUR) and Ticuna (TIC) - were assigned to their appropriate geographical regions unambiguously. For the other test populations, most of the individuals were assigned to their self-identified geographical regions with a certain degree of overlap with adjacent populations. These alternative ancestry components for each individual thus help give a clearer picture of the possible group origins of the individual. We have demonstrated that the new AISNP panel can achieve a deeper resolution of global ancestry.
许多用于推断祖先信息的单核苷酸多态性（AISNP）面板已被公布。根据所使用的面板不同，它们对祖先的分辨能力在三到八个大陆人群聚类之间有所差异。然而，这些面板在东亚人群之间的区分效果都不太好。为满足这一需求，我们在分析了大量单核苷酸多态性（SNP），以研究东亚地区两个地理位置相近的人群组之间的固定指数（Fst）和等位基因频率差异后，开发了一个包含74个AISNP的面板。这个74个AISNP的面板现在能够在全球范围内区分至少10个生物地理人群组：撒哈拉以南非洲、北非、欧洲、西南亚、南亚、北亚、东亚、东南亚、太平洋地区和美洲。与我们之前的55个AISNP面板相比，东南亚和北亚是两个新可区分的聚类。对于个体祖先推断，我们在来自11个人群的另一组500名测试个体上分析了似然比和祖先成分。来自五个测试人群——约鲁巴人（YRI）、欧洲人（CEU）、河南汉族（CHNH）、朗多尼亚苏瑞人（SUR）和提库纳人（TIC）——的所有个体都被明确地分配到了他们各自合适的地理区域。对于其他测试人群，大多数个体被分配到了他们自我认定的地理区域，且与相邻人群有一定程度的重叠。因此，每个个体这些不同的祖先成分有助于更清晰地描绘出该个体可能的群体起源。我们已经证明，新的AISNP面板能够实现对全球祖先更深入的分辨。
