摘要
目的验证和评估27-plex SNPs复合扩增系统(简称27重SNP系统)推断种族来源的效能。方法验证27重SNP系统的灵敏度和种属特异性;用该系统检测非洲、华南地区汉族、回族、苗族、彝族、藏族、维吾尔族、欧洲、中亚、西亚、南亚、东南亚、南美洲等13个人群的533份样本,将其分型数据与Hap Map数据库的东亚(CHB)、欧洲(CEU)、非洲(YRI)3个代表人群的分型数据进行聚类分析,分析祖先成分,计算匹配概率;分析46份盲测样本的种族来源。结果该系统灵敏度达0.125 ng;除猩猩和猴子分别检出20和6个位点,其余动物样本仅在rs10496971位点检出扩增产物;该系统可以进行洲际人群区分,但是无法区分东南亚与东亚人群,无法细分广东汉族与彝族、回族、苗族和藏族等少数民族人群;盲测样本洲际人群推断的准确率为100%。结论27重SNP系统灵敏度高、特异性好,可准确区分个体的非洲、欧洲或东亚祖先成分。该系统不具备亚人群区分效力,有待后续筛选更多的特异性祖先信息标记,以满足区分东南亚人群以及中国不同族群的需要。
Objective To validate the efficiency of 27-plex single nucleotide polymorphism(SNP) multiplex system for ancestry inference. Methods The 27-plex SNP system was validated for its sensitivity and species specificity. A total of 533 samples were collected from African, Southern Chinese Han, China's ethic minorities(Yi, Hui, Miao, Tibet, and Uygur), European, Central Asian, Western Asian, Southern Asian, Southeast Asian and South American populations for clustering analysis of the genotypes by citing 3 representative continental ancestral groups [East Asia(CHB), Europe(CEU), and Africa(YRI)] from Hap Map database. Results The system sensitivity is 0.125 ng. Twenty and six genotypes were detected in chimpanzee and monkeys, respectively. Except in rs10496971, no more products were found in other animals. The system was capable of differentiating intercontinental populations but not of distinguishing between East Asian and Southeast Asian population or between Southern Chinese Han population and Chinese Ethnic populations(Hui, Miao, Yi and Tibet). This system achieved a100% accuracy for intercontinental population source inference for 46 blind test samples. Conclusion 27-plex SNPs multiplex system has a high sensitivity and species specificity and can correctly differentiate the ancestry origins of individuals from African, European and East Asian for criminal case investigation. But this system is not capable of distinguishing subpopulation groups and more specific ancestry-informative markers are needed to improve its recognition of Southeast Asian and Chinese ethnic populations.
出处
《南方医科大学学报》
CAS
CSCD
北大核心
2017年第4期555-562,共8页
Journal of Southern Medical University
基金
法医遗传学公安部重点实验室开放课题(2015FGKFKT03)
"十二五"国家科技支撑计划项目(2012BAK02B01-1)
关键词
法医物证学
SNP
祖先信息位点
种族来源推断
forensics biological evidence
single nucleotide polymorphisms
ancestry-informative markers
ancestry inference
