30个祖先信息位点的筛选及应用

遗传 ›› 2014, Vol. 36 ›› Issue (8): 779-785.

30个祖先信息位点的筛选及应用

李彩霞¹,贾竟²,魏以梁³,万立华²,胡兰¹,叶健¹

1. 公安部物证鉴定中心
2. 重庆医科大学
3. 天津医科大学基础医学研究中心

收稿日期:2013-12-25 修回日期:2014-04-21 出版日期:2014-08-20 发布日期:2013-07-19
通讯作者: 李彩霞 E-mail:licaixia@tsinghua.org.cn
基金资助:
“十二五”支撑计划课题;中央公益类基本科研业务费项目

The selection of 30 ancestry informative markers and its application in ancestry inference

Caixia Li¹, Jing Jia², Yiliang Wei³, Lihua Wan², Lan Hu¹, Jian Ye¹

1. Institute of Forensic Science, Ministry of Public Security, Beijing 100038, China;
2. Chongqing Medical University, Chongqing 400016, China;
3. Key Laboratory of Medical Epigenetics, Tianjin Research Center of Basic Medical Sciences, Tianjin 300070, China

Received:2013-12-25 Revised:2014-04-21 Online:2014-08-20 Published:2013-07-19
Contact: Li Caixia E-mail:licaixia@tsinghua.org.cn

摘要/Abstract

摘要： 摘要：目的筛选一组祖先信息SNPs位点（AIMs，Ancestry Informative Markers），构建复合检测体系，用于东亚、欧洲和非洲人群遗传成分描述及个体种族来源推断。方法以HapMap数据库9个人群的658份样本的分型数据为基础，从30个表型相关基因总共282个SNPs位点中筛选出30个AIMs位点，基于微测序-通用芯片技术构建复合检测体系，并建立人群等位基因频率数据库。使用这组位点分析HapMap数据库中658份人群样本，初步验证位点的区分效能；然后，使用研究构建的体系检验收集的5个人群194份无关个体的DNA样本。最后，通过Structure软件分析获取人群的成分构成以及个体的遗传成分，对个体样本进行种族来源推断。结果筛选的30个AIMs位点符合哈迪温伯格平衡（p>0.01），位点之间没有连锁（r2<0.1）， 658份HapMap数据库样本和194份实验样本的祖先成分分析结果与已知结果完全一致。结论本文筛选并建立的30个AIMs位点复合检测体系，能够有效实现东亚、欧洲、非洲人群及混合人群的成分构成和个体遗传成分的分析，有效控制遗传连锁分析中由于人群分层现象带来的误差，也可以用于法医DNA检验中个体祖先来源推断。

关键词: 关键词：分子遗传学, SNP复合检测体系, AIMs, 祖先来源推断

Abstract: Abstract: Objective To select a panel of ancestry informative markers and develop a multiplexed assay for description of genetic components of Asian, European and African populations and individual ancestry inference. Methods Based on the genotyping data of 658 samples of 9 populations from the HapMap database, 30 AIMs were finally selected from 282 SNPs screened from 30 phenotypic correlation genes. Multiplexed assay was developed based on the micro sequencing-general chip technologies and population allele frequency database was set up. 658 samples from HapMap were analyzed by this panel of AIMs to testify the efficacy, then, 194 unrelated DNA samples from 5 populations were recruited for assay validation. Finally, population genetic components and individual genetic composition were generated by STRUCTURE, and individual ancestry inference could be made. Results The 30-AIMs assay is well balanced for Hardy- Weinberg equilibrium (p>0.01) and there is no linkage disequilibrium （r2<0.1）. Ancestry component analyses for 658 samples from HapMap and 194 recruited samples are consistent with the known origin. Conclusions The established panel filtrated and developed by the 30 AIMs can be applied to analyze the genetic components of Asian, European and African populations and individual genetic composition, which will be efficient for error-control caused by population stratification in genetic association analyses and for individual ancestry inference in forensic DNA test.

Key words: Keywords: Molecular genetics, SNP multiplex system, AIMs, Ancestry inference

李彩霞,贾竟,魏以梁,万立华,胡兰,叶健. 30个祖先信息位点的筛选及应用[J]. 遗传, 2014, 36(8): 779-785.

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