Wei Yi-Liang, Wei Li, Zhao Lei, Sun Qi-Fan, Jiang Li, Zhang Tao, Liu Hai-Bo, Chen Jian-Gang, Ye Jian, Hu Lan, Li Cai-Xia
Key Laboratory of Forensic Genetics, Institute of Forensic Science, Ministry of Public Security, 100038, Beijing, 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, 300070, Tianjin, People's Republic of China.
Int J Legal Med. 2016 Jan;130(1):27-37. doi: 10.1007/s00414-015-1183-5. Epub 2015 Apr 2.
A single-tube multiplex assay of a small set of ancestry-informative markers (AIMs) for effectively estimating individual ancestry and admixture is an ideal forensic tool to trace the population origin of an unknown DNA sample. We present a newly developed 27-plex single nucleotide polymorphism (SNP) panel with highly robust and balanced differential power to perfectly assign individuals to African, European, and East Asian ancestries. Evaluating 968 previously described intercontinental AIMs from three HapMap population genotyping datasets (Yoruban in Ibadan, Nigeria (YRI); Utah residents with Northern and Western European ancestry from the Centre de'Etude du Polymorphism Humain (CEPH) collection (CEU); and Han Chinese in Beijing, China (CHB)), the best set of markers was selected on the basis of Hardy-Weinberg equilibrium (p > 0.00001), population-specific allele frequency (two of three δ values >0.5), according to linkage disequilibrium (r (2) < 0.2), and capable of being multiplexed in one tube and detected by capillary electrophoresis. The 27-SNP panel was first validated by assigning the ancestry of the 11 populations in the HapMap project. Then, we tested the 27-plex SNP assay with 1164 individuals from 17 additional populations. The results demonstrated that the SNP panel was successful for ancestry inference of individuals with African, European, and East Asian ancestry. Furthermore, the system performed well when inferring the admixture of Eurasians (EUR/EAS) after analyzing admixed populations from Xinjiang (Central Asian) as follows: Tajik (68:27), Uyghur (49:46), Kirgiz (40:57), and Kazak (36:60). For individual analyses, we interpreted each sample with a three-ancestry component percentage and a population match probability sequence. This multiplex assay is a convenient and cost-effective tool to assist in criminal investigations, as well as to correct for the effects of population stratification for case-control studies.
一种用于有效估计个体血统和混合情况的少量血统信息标记（AIMs）的单管多重检测方法，是追踪未知DNA样本群体来源的理想法医工具。我们展示了一种新开发的27重单核苷酸多态性（SNP）面板，其具有高度稳健且平衡的差异效能，能够完美地将个体归为非洲、欧洲和东亚血统。通过评估来自三个HapMap群体基因分型数据集（尼日利亚伊巴丹的约鲁巴人（YRI）；来自人类多态性研究中心（CEPH）集合的具有北欧和西欧血统的犹他州居民（CEU）；以及中国北京的汉族（CHB））的968个先前描述的洲际AIMs，基于哈迪-温伯格平衡（p > 0.00001）、群体特异性等位基因频率（三个δ值中的两个> 0.5）、根据连锁不平衡（r(2) < 0.2），并能够在一管中进行多重检测并通过毛细管电泳进行检测，选择了最佳的标记集。首先通过确定HapMap项目中11个群体的血统对27-SNP面板进行验证。然后，我们用来自另外17个群体的1164名个体测试了27重SNP检测方法。结果表明，该SNP面板在推断具有非洲、欧洲和东亚血统个体的血统方面是成功的。此外，在分析来自新疆（中亚）的混合群体（如下：塔吉克族（68:27）、维吾尔族（49:46）、柯尔克孜族（40:57）和哈萨克族（36:60））后，该系统在推断欧亚混血（EUR/EAS）个体的混合情况时表现良好。对于个体分析，我们用三个血统成分百分比和群体匹配概率序列来解释每个样本。这种多重检测方法是协助刑事调查以及校正病例对照研究中群体分层影响的方便且经济高效的工具。
