摘要
使用一组祖先信息SNPs位点(Ancestry informative markers,AIMs)可以分析某人群的遗传成分构成,推断某个体的祖先来源。文章以HapMap数据库9个人群658份样本的分型数据为基础,从30个表型相关基因的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,建立人群等位基因频率数据库,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。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;使用构建的体系检验5个人群194份无关个体的DNA样本;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。结果表明: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。文章筛选并建立的30个AIMs位点复合检测体系能够有效地实现东亚、欧洲、非洲人群及其混合人群的成分构成和个体遗传成分的分析,该体系可以用于法医DNA检验中个体祖先的来源推断。
A panel of ancestry informative markers （AlMs） can be used to describe the genetic components of a popula- tion and infer the ancestral origin of a DNA sample. In this study, we selected 30 AIMs from 282 SNPs screened from 30 phenotype-related genes based on the genotyping data of 658 samples from nine populations in the HapMap database. Then, a multiplex assay was developed based on micro-sequencing general chip technologies, and a population allele frequencydatabase was established. This system was utilized to ascertain the origin of subjects from East Asian, European, and Afri- can. First, 658 HapMap samples were analyzed using this panel of AIMs, and then 194 unrelated DNA samples from five populations were used for fiarther validation of the system. Finally, population genetic components and individual genetic composition were generated using Structure software, and individual ancestry inferences were made. The 30-AIM assay was well balanced for Hardy-Weinberg equilibrium （P 〉 0.01）, and there was no linkage disequilibrium （r2 〈 0.1）. Ancestry component analyses for the 658 HapMap samples and 194 recruited samples were consistent with their known origins. The established panel filtered and developed by the 30 AIMs can be applied to analyze the genetic components of Asian, Euro- pean, and African populations, as well as individual genetic composition.
出处
《遗传》
CAS
CSCD
北大核心
2014年第8期779-785,共7页
Hereditas（Beijing)
基金
"十二五"支撑计划课题(编号:2012BAK02B01)
中央公益类基本科研业务费项目(编号:2013JB018)资助
