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用于个人识别的高鉴别力单核苷酸多态性(SNP)的全基因组筛选及其在世界人群中的评估。

Genome-wide screening for highly discriminative SNPs for personal identification and their assessment in world populations.

作者信息

Li Liming, Wang Yi, Yang Shuping, Xia Mingying, Yang Yajun, Wang Jiucun, Lu Daru, Pan Xingwei, Ma Teng, Jiang Pei, Yu Ge, Zhao Ziqin, Ping Yuan, Zhou Huaigu, Zhao Xueying, Sun Hui, Liu Bing, Jia Dongtao, Li Chengtao, Hu Rile, Lu Hongzhou, Liu Xiaoyang, Chen Wenqing, Mi Qin, Xue Fuzhong, Su Yongdong, Jin Li, Li Shilin

机构信息

MOE Key Laboratory of Contemporary Anthropology and State Key Laboratory of Genetic Engineering, Collaborative Innovation Center of Genetics and Developmental Biology and School of Life Sciences, Fudan University, Shanghai, 200438, China.

MOE Key Laboratory of Contemporary Anthropology and State Key Laboratory of Genetic Engineering, Collaborative Innovation Center of Genetics and Developmental Biology and School of Life Sciences, Fudan University, Shanghai, 200438, China; Fudan-Taizhou Institute of Health Sciences, Jiangsu, 225300, China.

出版信息

Forensic Sci Int Genet. 2017 May;28:118-127. doi: 10.1016/j.fsigen.2017.02.005. Epub 2017 Feb 16.

DOI:10.1016/j.fsigen.2017.02.005
PMID:28249201
Abstract

The applications of DNA profiling aim to identify perpetrators, missing family members and disaster victims in forensic investigations. Single nucleotide polymorphisms (SNPs) based forensic applications are emerging rapidly with a potential to replace short tandem repeats (STRs) based panels which are now being used widely, and there is a need for a well-designed SNP panel to meet such challenge for this transition. Here we present a panel of 175 SNP markers (referred to as Fudan ID Panel or FID), selected from ∼3.6 million SNPs, for the application of personal identification. We optimized and validated FID panel using 729 Chinese individuals using a next generation sequencing (NGS) technology. We showed that the SNPs in the panel possess very high heterozygosity as well as low within- and among-continent differentiations, enabling FID panel exhibit discrimination power in both regional and worldwide populations, with the average match probabilities ranging from 4.77×10 to 1.06×10 across 54 world populations. With the advent of biomedical research, the SNPs connecting physical anthropological, physiological, behavioral and phenotypic traits will be eventually added to the forensic panels that will revolutionize criminal investigation.

摘要

DNA 分型技术的应用旨在在法医调查中识别犯罪者、失踪家庭成员和灾难受害者。基于单核苷酸多态性(SNP)的法医应用正在迅速兴起,有潜力取代目前广泛使用的基于短串联重复序列(STR)的检测板,因此需要精心设计的 SNP 检测板来应对这一转变带来的挑战。在此,我们展示了一个由 175 个 SNP 标记组成的检测板(称为复旦身份识别检测板或 FID),这些标记是从约 360 万个 SNP 中筛选出来用于个人身份识别的。我们使用下一代测序(NGS)技术对 729 名中国个体优化并验证了 FID 检测板。我们发现该检测板中的 SNP 具有非常高的杂合性以及较低的大陆内部和大陆之间差异度,使得 FID 检测板在区域和全球人群中均表现出鉴别能力,在 54 个世界人群中的平均匹配概率范围为 4.77×10 至 1.06×10。随着生物医学研究的出现,连接体质人类学、生理学、行为学和表型特征的 SNP 最终将被添加到法医检测板中,这将彻底改变刑事调查。

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