Multi-Omics Innovative Research Center of Forensic Identification, School of Forensic Medicine, Southern Medical University, Guangzhou, Guangdong, PR China.
Institute of Brain and Behavioral Sciences, College of Life Sciences, Shaanxi Normal University, Xi'an, Shaanxi, PR China.
J Hum Genet. 2020 May;65(5):461-468. doi: 10.1038/s10038-020-0725-y. Epub 2020 Feb 21.
Predicting the biogeographical ancestries of populations and unknown individuals based on ancestry-informative markers (AIMs) has been widely applied in providing DNA clues to criminal investigations, correcting the factor of population stratification in genome-wide association studies (GWAS), and working as the basis of predicting the externally visible characteristics (EVCs) of individuals. The present study chose Chinese Xinjiang Kazak (XJK) group as research object using a 165 AIM-SNPs panel via next generation sequencing (NGS) technology to reveal its ancestral information and genetic background by referencing the populations' data from 1000 Genomes Phase 3. After the Bonferroni correction, there were no significant deviations at the 165 AIM-SNP loci except two loci with homozygote in the studied XJK group. Ancestry information inference and populations genetic analyses were conducted basing on multiplex statistical methods such as forensic statistical parameter analyses, estimation of the success ratios with cross-validation, population tree, principal component analysis (PCA), and genetic structure analysis. The present results revealed that XJK group had the admixed ancestral components of East Asian and European populations with the ratio of about 62:37.
基于与祖先相关的遗传标记(AIMs)预测群体和未知个体的生物地理起源,已广泛应用于为犯罪调查提供 DNA 线索、纠正全基因组关联研究(GWAS)中的人口分层因素,以及作为预测个体外部可见特征(EVCs)的基础。本研究选择中国新疆哈萨克族(XJK)群体作为研究对象,使用 165 个基于下一代测序(NGS)技术的 AIM-SNPs 面板,通过参考来自 1000 Genomes Phase 3 的人群数据,揭示其祖先信息和遗传背景。经过 Bonferroni 校正,除了在研究的 XJK 群体中存在两个纯合子的两个位点外,165 个 AIM-SNP 位点没有显著偏差。基于法医统计参数分析、交叉验证成功率估计、群体树、主成分分析(PCA)和遗传结构分析等多重统计方法进行了祖先信息推断和群体遗传分析。本研究结果表明,XJK 群体具有东亚和欧洲人群的混合祖先成分,比例约为 62:37。