用于五大洲际人群区分的SNP体系研究  

The study of a SNP-multiplex for the ancestry inference of five continental populations

作　　者：郝伟琪 刘京[2] 江丽[2] 黄美莎 李玖玲 马泉[2] 刘超 李彩霞[2] 王慧君[1] Hao Weiqi1, Liu Jing2, Jiang Li2, Huang Meisha3, Li Jiuling2, Ma Quan2, Liu Chao1,4, Li Caixia2., Wang Huijun1(1Institute of Forensic Medicine, Southern Medical University, Guangzhou 510515; 2Key Laboratory of Forensic Genetics, Beijing Engineering Research Center of Crime Scene Evidence Examination, National Engineering Laboratory for Forensic Science, Institute of Forensic Science, Beifing 100038;3Institute of Forensic Medicine, Shanxi Medical University, Taiyuan 030001 ; 4Guangzhou Forensic Science Institute, Guangdong Province Key Laboratory of Forensic Genetics, Guangzhou 510030, Chin)

机构地区：[1]南方医科大学法医学院,广东广州510515 [2]公安部物证鉴定中心北京市现场物证检验工程技术研究中心法医遗传学公安部重点实验室现场物证溯源技术国家工程实验室,北京100038 [3]山西医科大学法医学院,山西太原030001 [4]广州市刑事科学技术研究所广东省法医遗传学重点实验室,广东广州510030

出　　处：《南京医科大学学报（自然科学版）》2018年第3期331-337,共7页Journal of Nanjing Medical University(Natural Sciences)

基　　金：国家重点研发计划(2017YFC0803501);中央公益类基本科研业务费专项资金项目(2016JB039);公安科技成果推广引导计划(2016TGYDGAES14)

摘　　要：目的:建立针对五大洲际人群(东亚、欧洲、非洲、大洋洲和美洲)的常染色体SNP复合检测体系,验证评价其人群区分效能。方法:从The Global AIMs Nano set中筛选出28个SNP位点进行复合检测体系的构建,用该体系检测来自16个人群的712份样本,检测结果和千人基因组中的20个人群和CEPH库中的2个人群合并共计2 804份个体的分型数据,采用聚类分析方法和主成分分析方法进行体系效能评价。选取祖先成分大于90%的样本构建参考人群分型库,对140份个体样本进行群体匹配概率、个体主成分分析等人群来源推断,评估该体系在实际样本的人群来源区分能力。结果:该体系不仅能对五大洲际人群进行区分,而且对混合人群也有一定区分能力,对已知来源样本的祖先成分和人群匹配分析结果显示与其来源信息一致。结论:该体系能够实现对欧洲、东亚、非洲、美洲、大洋洲以及混合人群的区分,并能够推断个体祖先来源成分组成,在实际检案中可以进行推广应用。Objective：This research was aimed to develop a single-tube multiplex assay of 28 autosomal SNPs to validate its ability of differentiating population from 5 continents and estimate its value in cases. Methods：We selected 28 SNPs from The Global AIMs Nano set to develop the single-tube multiplex assay using SNa Pshot technique system. Using this system,we detected 712 individuals from 16 populations in our lab. We combined these results and data that collected from 1 000 genomes and HGDP-CEPH（total 2 804 samples,38 populations）together and used structure cluster analysis and frequency PCA analysis to evaluate this panel. We selected samples of which ancestry component was greater than 90% to build classification library of reference population. Analyses of group matching probability（MP）and individual principal component were performed in 140 individual samples to evaluate the differentiation ability on population source of the multiplex assay in actual samples. Results：Not only could this multiplex assay of 28 SNPs differentiate the population from 5 continents but the admixture of South Asia and Eurasian population. The ancestry component and MP value of some known origin samples were consistent with the sample information. Conclusion：This multiplex assay can differentiate the population from 5 continents and differentiate the ancestry origins of individuals correctly. This multiplex assay is applicable for criminal investigations in the forensic practice.

关 键 词：法医遗传学 AIMS 复合扩增 人群遗传结构分析 祖先来源推断 

分 类 号：D919.2[医药卫生—法医学]