采用ForenSeqTM DNA Signature Prep试剂盒进行祖先推断

Ancestry Inference Using the ForenSeqTM DNA Signature Prep Kit

目的评估ForenSeq^TM DNA Signature Prep试剂盒中56个祖先信息单核苷酸多态性(ancestry informative single nucleotide polymorphism,aiSNP)遗传标记进行祖先推断的效果。方法采集我国河北汉族、内蒙古自治区蒙古族、西藏自治区藏族、新疆维吾尔自治区维吾尔族和尼日利亚5个群体共85个样本,采用ForenSeq^TM DNA Signature Prep试剂盒构建文库,基于MiSeq FGx法医基因组学系统进行测序,对获得的56个aiSNP分型数据分别采用ForenSeq^TM通用分析软件(universal analysis software,UAS)、主成分分析(principle component analysis,PCA)、Structure和似然比方法进行群体间遗传关系分析和祖先来源推断。结果在所检测的5个群体中,我国的4个民族(河北汉族、内蒙古自治区蒙古族、西藏自治区藏族和新疆维吾尔自治区维吾尔族)与尼日利亚群体可明确区分;新疆维吾尔自治区维吾尔族个体显示为混合祖先来源,能与中国其他3个群体进行区分;而中国的其他3个群体(河北汉族、内蒙古自治区蒙古族和西藏自治区藏族)使用该体系不能有效区分。结论 ForenSeq^TM DNA Signature Prep试剂盒的56个aiSNP可从洲际水平准确进行族源推断,但尚不能实现中国群体之间的区分。

Objective To evaluate the effect of 56 ancestry informative single nucleotide polymorphism(aiSNP) genetic markers in the ForenSeq^TM DNA Signature Prep Kit on ancestry inference. Methods A total of 85 samples from five populations including Hebei Han population, Inner Mongolia autonomous region Mongolian population, Tibet autonomous region Tibetan population, Xinjiang Uygur autonomous region Uygur population and Nigerian population were collected. The library was constructed with the ForenSeq^TM DNA Signature Prep Kit and sequencing was performed based on the MiSeq FGx Forensic Genomics System. Using universal analysis software(UAS)of ForenSeq^TM, principal component analysis(PCA), Structure and likelihood ratio method was used on the genotyping data of 56 aiSNP markers, respectively, and the genetic relationships between populations and inference of the origin of ancestors were analyzed. Results Among the five populations tested, the four ethnic populations in China(Hebei Han population, Inner Mongolia autonomous region Mongolian population, Tibet autonomous region Tibetan population and Xinjiang Uygur autonomous region Uygur population)could be significantly distinguished from Nigerian population. Xinjiang Uygur autonomous region Uygur individuals were shown as having mixed origins of ancestors and could be distinguished from the other three Chinese populations. However, the other three populations in China(Hebei Han population, Inner Mongolia autonomous region Mongolian population and Tibet autonomous region Tibetan population) could not be effectively distinguished by the system. Conclusion The 56 aiSNP markers in the ForenSeq^TM DNA Signature Prep Kit can make accurate ancestry inference from the intercontinental level, but it is not yet able to distinguish between Chinese subpopulations.