Key Laboratory of Forensic Genetics, Beijing Engineering Research Center of Crime Scene Evidence Examination, Institute of Forensic Science, Beijing, 100038, People's Republic of China.
Key Laboratory of Forensic Genetics, Beijing Engineering Research Center of Crime Scene Evidence Examination, Institute of Forensic Science, Beijing, 100038, People's Republic of China; Department of Immunology, Biochemistry and Molecular Biology, 2011 Collaborative Innovation Center of Tianjin for Medical Epigenetics, Tianjin Key Laboratory of Medical Epigenetics, Tianjin Medical University, Tianjin, 300070, People's Republic of China.
Forensic Sci Int Genet. 2018 Jul;35:e10-e12. doi: 10.1016/j.fsigen.2018.05.006. Epub 2018 May 18.
Over the last decade, several panels of ancestry-informative markers have been proposed for the analysis of population genetic structure. The differentiation efficiency depends on the discriminatory ability of the included markers and the reference population coverage. We previously developed a small set of 27 autosomal single nucleotide polymorphisms (SNPs) for analyzing African, European, and East Asian ancestries. In the current study, we gathered a high-coverage reference database of 110 populations (10,350 individuals) from across the globe. The discrimination power of the panel was re-evaluated using four continental ancestry groups (as well as Indigenous Americans). We observed that all the 27 SNPs demonstrated stratified population specificity leading to a striking ancestral discrimination. Five markers (rs728404, rs7170869, rs2470102, rs1448485, and rs4789193) showed differences (δ > 0.3) in the frequency profiles between East Asian and Indigenous American populations. Ancestry components of all involved populations were accurately accessed compared with those from previous genome-wide analyses, thereafter achieved broadly population separation. Thus, our ancestral inference panel of a small number of highly informative SNPs in combination with a large-scale reference database provides a high-resolution in estimating ancestry compositions and distinguishing individual origins. We propose extensive usage in biomedical studies and forensics.
在过去的十年中，已经提出了几个基于祖先信息的标记物面板，用于分析人口遗传结构。分化效率取决于所包含标记物的区分能力和参考人群的覆盖范围。我们之前开发了一小组 27 个常染色体单核苷酸多态性 (SNP) ，用于分析非洲、欧洲和东亚的祖先。在当前的研究中，我们收集了来自全球的 110 个人群（10350 人）的高覆盖率参考数据库。使用四个大陆祖先群体（以及美洲原住民）重新评估了该面板的区分能力。我们观察到，所有 27 个 SNP 都表现出分层的人群特异性，导致明显的祖先区分。五个标记物（rs728404、rs7170869、rs2470102、rs1448485 和 rs4789193）在东亚和美洲原住民群体之间的频率分布存在差异（δ > 0.3）。与之前的全基因组分析相比，所有涉及人群的祖先成分都能被准确地获取，从而实现了广泛的人群分离。因此，我们的少量高度信息 SNP 祖先推断面板与大型参考数据库相结合，提供了一种高精度估计祖先成分和区分个体起源的方法。我们建议在生物医学研究和法医学中广泛使用。
