法医学杂志

法医学杂志 ›› 2019, Vol. 35 ›› Issue (5): 545-552.DOI: 10.12116/j.issn.1004-5619.2019.05.007

所属专题： 人体表征分子鉴识

• 专题 • 上一篇    下一篇

基于AIM-InDels位点复合扩增体系检测乌鲁木齐蒙古族祖先信息

沈春梅1， 解通2， 梅书燕2， 方雅婷2， 兰琼2， 刘艳芳2， 朱波峰2，3， 邰发道1   

  1. 1. 陕西师范大学生命科学学院，陕西 西安 710062； 2. 南方医科大学法医学院，广东 广州 510515； 3. 西安交通大学口腔医院 陕西省颅颌面精准医学研究重点实验室，陕西 西安 710004
  • 发布日期:2019-10-25 出版日期:2019-10-28
  • 通讯作者: 邰发道，男，教授，博士研究生导师，主要从事动物行为学及行为生理学研究；E-mail：taifadao@snnu.edu.cn
  • 作者简介:沈春梅（1974—），女，博士，研究员，主要从事法医物证学研究；E-mail：shenchunmei201618@yeah.net
  • 基金资助:
    国家自然科学基金资助项目（81471824）

Detection of Ancestry Information of Urumqi Mongolians Based on the AIM-InDels Loci Multiplex System

SHEN Chun-mei1, XIE Tong2, MEI Shu-yan2, FANG Ya-ting2, LAN Qiong2, LIU Yan-fang2, ZHU Bo-feng2,3, TAI Fa-dao1   

  1. 1. Shaanxi Normal University College of Life Sciences, Xi’an 710062, China; 2. School of Forensic Medicine, Southern Medical University, Guangzhou 510515, China; 3. College of Stomatology, Xi’an Jiaotong University, Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research, Xi’an 710004, China
  • Online:2019-10-25 Published:2019-10-28

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摘要： 目的 基于课题组前期构建的用于祖先信息推断的39个AIM-InDels位点复合扩增检测体系，探索乌鲁木齐地区蒙古族的遗传背景和遗传结构。 方法 采集乌鲁木齐市蒙古族145名健康无关个体血样进行基因分型，以千人基因组计划数据库中三个洲际（东亚、欧洲和非洲）的17个群体作为参考人群，研究乌鲁木齐蒙古族的祖先信息构成。应用多种群体遗传学和生物信息学分析方法，进行配对群体间的Fst值与DA值比较分析、PCA分析、系统发育树的构建。应用Strucutre等软件分析乌鲁木齐蒙古族的祖先信息成分比例。 结果 乌鲁木齐蒙古族在不同洲际群体的祖先信息成分占比为89∶7∶3（东亚∶欧洲∶非洲）。相对于其他洲际群体，乌鲁木齐蒙古族与东亚群体有较小的Fst值与DA值，PCA分析中其与东亚群体形成聚类，系统发育树中亦与东亚群体在同一个分支。 结论 乌鲁木齐蒙古族与东亚人群有着较近的遗传关系，其东亚祖先成分比例约为89%。

关键词: 法医遗传学, 遗传学, 群体, 遗传结构, 祖先信息标记, 插入/缺失, 蒙古族, 乌鲁木齐

Abstract: Objective To explore the genetic background and structure of Urumqi Mongolians, the previously developed 39-AIM-InDels panel for ancestry inference was utilized in the present study. Methods The blood samples of 145 unrelated healthy Urumqi Mongolian individuals were collected and genotyped. The compositions of ancestry information of Urumqi Mongolians were studied with 17 different populations from three continents （East Asia, Europe and Africa） as reference populations. Then, multiple population genetics and bioinformatics analysis methods were applied, the Fst and DA values between matched populations were compared and analyzed, PCA analysis was performed and a phylogenetic tree was constructed. The proportions of ancestry information components of Urumqi Mongolians were analyzed with Structure software, etc. Results The ancestry information components of Urumqi Mongolian group in different intercontinental populations accounted for 89%, 7%, and 3% of East Asian, European, and African populations, respectively. Compared with other intercontinental populations, Urumqi Mongolian group and East Asian populations have lower Fst and DA values, and they were in the same cluster in PCA analysis as well. In a phylogenetic tree, the Urumqi Mongolian group was in the same branch as East Asian populations. Conclusion Urumqi Mongolian group had relatively close genetic relationships with East Asian populations, and the proportion of its East Asian ancestry was about 89%.

Key words: forensic genetics, genetics, population, genetic structures, ancestry informative marker, insertion/deletion, Mongolian, Urumqi