74重SNP族群来源推断体系准确性验证研究

The validation study of 74-plex SNP assay for ancestry inference

目的:验证74重单核苷酸多态性位点(SNP,Single Nucleotide Polymorphism)复合扩增体系用于全球十个区域亚人群(撒哈拉以南的非洲、北非、欧洲、西南亚、南亚、北亚、东亚、东南亚、大洋洲、美洲)推断的准确性。方法:基于Agena Mass ARRY平台构建74重SNP复合扩增体系,检测176份盲测样本和10份已知族群的对照样本,使用全球57个人群3628份个体SNP分型作为参考人群库,使用项目组自主研发的族群来源推断自动分析系统(DNA Ancestry Analyzer Version 1.0,以下简称DAA V1.0)计算176份盲测样本和10份对照样本的群体匹配概率(AMP,Population Assignment Match Probability)、似然比(LR,Likelihood Ratio)和族群成分,综合分析三个结果进行推断。结果:176份盲测样本的族群推断结果与样本信息一致性为92.34%,10份对照样本族群推断结果与样本信息一致性为100%。结论:该74重SNP复合扩增体系能够准确推断未知个体洲际人群和亚人群来源,在实际案件中可应用,为案件侦查提供更详细的科学线索。

Objective To validate a 74-plex SNP assay for ancestry inference in the following ten geographic regions: Sub-Saharan Africa, North Africa, European, Southwest Asia, South Asia, North Asia, East Asia, Southeast Asia, Pacific and Americas. Method The SNP genotype was assayed by Agena Mass ARRY. We tested 176 blind test samples and 10 control samples using the 74-plex SNP assay. Population assignment match probability(AMP), likelihood ratio(LR) and ancestry component were calculated by a self-developed software DNA Ancestry Analyzer Version 1.0(DAA V1.0). Results: For the blind test samples, 92.34% of the predicted results are consistent with their self-declared ancestry. For the 10 control samples, the predicted results are all consistent with their self-declared ancestry. Conclusion The results demonstrated that the 74-plex SNP assay can be effectively used to infer the ancestry of unknown individuals in the level of intercontinental populations and subpopulations. The ancestry inference result can provide scientific clues for case investigation.