30个祖先信息位点的筛选及应用

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

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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

Abstract

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

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

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