法医学杂志

法医学杂志 ›› 2019, Vol. 35 ›› Issue (5): 560-566.DOI: 10.12116/j.issn.1004-5619.2019.05.009

所属专题： 人体表征分子鉴识

• 专题 • 上一篇    下一篇

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

汪娜娜， 李燃， 乌日嘎， 彭丹， 李海霞， 沈雪枫， 孙宏钰   

  1. 中山大学中山医学院法医学系，广东 广州 510089
  • 发布日期:2019-10-25 出版日期:2019-10-28
  • 通讯作者: 孙宏钰，女，教授，博士研究生导师，主要从事法医物证学研究；E-mail：sunhongyu2002@163.com
  • 作者简介:汪娜娜（1992—），女，硕士研究生，主要从事法医物证学研究；E-mail：370785408@qq.com
  • 基金资助:
    国家自然科学基金面上资助项目（81671873）

Ancestry Inference Using the ForenSeqTM DNA Signature Prep Kit

WANG Na-na, LI Ran, WU Ri-ga, PENG Dan, LI Hai-xia, SHEN Xue-feng, SUN Hong-yu   

  1. Faculty of Forensic Medicine, Zhongshan Medical College, Sun Yat-sen University, Guangzhou 510089, China
  • Online:2019-10-25 Published:2019-10-28

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摘要： 目的 评估ForenSeqTM 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ForenSeqTM 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ForenSeqTM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 ForenSeqTM 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。

关键词: 法医遗传学, 多态性, 单核苷酸, 祖先推断, 二代测序

Abstract: Objective To evaluate the effect of 56 ancestry informative single nucleotide polymorphism （aiSNP） genetic markers in the ForenSeqTM 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 ForenSeqTM DNA Signature Prep Kit and sequencing was performed based on the MiSeq FGx Forensic Genomics System. Using universal analysis software （UAS） of ForenSeqTM, 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 ForenSeqTM DNA Signature Prep Kit can make accurate ancestry inference from the intercontinental level, but it is not yet able to distinguish between Chinese subpopulations.

Key words: forensic genetics, polymorphism, single nucleotide, ancestry inference, second generation sequencing