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Next generation sequencing of a set of ancestry-informative SNPs: ancestry assignment of three continental populations and estimating ancestry composition for Mongolians.
Molecular Genetics and Genomics ( IF 3.1 ) Pub Date : 2020-03-23 , DOI: 10.1007/s00438-020-01660-2
Qiong Lan 1 , Yating Fang 1 , Shuyan Mei 1 , Tong Xie 1 , Yanfang Liu 1 , Xiaoye Jin 2, 3 , Guang Yang 4 , Bofeng Zhu 1, 2, 3
Affiliation  

When traditional short tandem repeat profiling fails to provide valuable information to arrest the criminal, forensic ancestry inference of the biological samples left at the crime scene will probably offer investigative leads and facilitate the investigation process of the case. That is why there are consistent efforts in developing panels for ancestry inference in forensic science. Presently, a 30-plex next generation sequencing-based assay was exploited in this study by assembling well-differentiated single nucleotide polymorphisms for ancestry assignment of unknown individuals from three continental populations (African, European and East Asian). And meanwhile, relatively balanced population-specific differentiation values were maintained to avoid the over-estimation or under-estimation of co-ancestry proportions in individuals with admixed ancestry. The principal component analysis and STRUCTURE analysis of reference populations, test populations and the studied Mongolian group indicated that the novel assay was efficient enough to determine the ancestry origin of an unknown individual from the three continental populations. Besides, ancestry membership proportion estimations for the Mongolian group revealed that a large fraction of the ancestry was contributed by East Asian genetic component (approximately 83.9%), followed by European (approximately 12.6%) and African genetic components (approximately 3.5%), respectively. And next generation sequencing technology applied in this study offers possibility to incorporate more single nucleotide polymorphisms for individual identification and phenotype prediction into the same assay to provide as many as possible investigative clues in the future.



中文翻译:

一组祖先信息性SNP的下一代测序:三个大陆种群的祖先分配和蒙古族的祖先组成估计。

当传统的短串联重复分析无法提供有价值的信息来逮捕犯罪分子时,对犯罪现场遗留的生物样本的法医血统推断可能会提供调查线索并促进案件的调查过程。这就是为什么要不断努力开发法证科学中的祖先推理小组的原因。目前,在这项研究中,通过组装高度分化的单核苷酸多态性,对来自三个大陆人群(非洲,欧洲和东亚)的未知个体进行祖先分配,开发了一种基于30-plex下一代测序的分析方法。同时,保持相对平衡的特定人群差异值,以避免在混合血统的个体中过高估计或过低估计过血统比例。对参考人群,测试人群和蒙古研究人群的主成分分析和结构分析表明,该新方法足以确定来自三个大陆人群的未知个体的祖先起源。此外,蒙古族的祖先成员比例估计表明,大部分祖先是由东亚遗传组成(约占83.9%),其次是欧洲(约12.6%)和非洲遗传(约占3.5%)。 。

更新日期:2020-04-22
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