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具有单核苷酸同聚物结构的多等位基因插入缺失的法医适用性。

Forensic applicability of multi-allelic InDels with mononucleotide homopolymer structures.

作者信息

Zhang Shu, Zhu Qiang, Chen Xiaogang, Zhao Yuancun, Zhao Xiaohong, Yang Yiwen, Gao Zehua, Fang Ting, Wang Yufang, Zhang Ji

机构信息

West China School of Basic Medical Sciences and Forensic Medicine, Sichuan University, Chengdu, Sichuan, P. R. China.

出版信息

Electrophoresis. 2018 Aug;39(16):2136-2143. doi: 10.1002/elps.201700468. Epub 2018 Jul 10.

Abstract

Insertion/deletion polymorphisms (InDels), which possess the characteristics of low mutation rates and a short amplicon size, have been regarded as promising markers for forensic DNA analysis. InDels can be classified as bi-allelic or multi-allelic, depending on the number of alleles. Many studies have explored the use of bi-allelic InDels in forensic applications, such as individual identification and ancestry inference. However, multi-allelic InDels have received relatively little attention. In this study, InDels with 2-6 alleles and a minor allele frequency ≥0.01, in Chinese Southern Han (CHS), were retrieved from the 1000 Genomes Project Phase III. Based on the structural analysis of all retrieved InDels, 17 multi-allelic markers with mononucleotide homopolymer structures were selected and combined in one multiplex PCR reaction system. Sensitivity, species specificity and applicability in forensic case work of the multiplex were analyzed. A total of 218 unrelated individuals from a Chinese Han population were genotyped. The combined discriminatory power (CDP), the combined match probability (CMP) and the cumulative probability of exclusion (CPE) were 0.9999999999609, 3.91E-13 and 0.9956, respectively. The results demonstrated that this InDel multiplex panel was highly informative in the investigated population and most of the 26 populations of the 1000 Genomes Project. The data also suggested that multi-allelic InDel markers with monomeric base pair expansions are useful for forensic applications.

摘要

插入/缺失多态性(InDels)具有突变率低和扩增子大小短的特点,被认为是法医DNA分析中有前景的标记物。InDels可根据等位基因数量分为双等位基因或多等位基因。许多研究探讨了双等位基因InDels在法医应用中的使用,如个体识别和祖先推断。然而,多等位基因InDels受到的关注相对较少。在本研究中,从千人基因组计划第三阶段检索出中国南方汉族(CHS)中具有2 - 6个等位基因且次要等位基因频率≥0.01的InDels。基于所有检索到的InDels的结构分析,选择了17个具有单核苷酸同聚物结构的多等位基因标记物,并将其组合在一个多重PCR反应体系中。分析了该多重体系在法医案件工作中的灵敏度、物种特异性和适用性。对来自中国汉族人群的218名无关个体进行了基因分型。联合鉴别力(CDP)、联合匹配概率(CMP)和累积排除概率(CPE)分别为0.9999999999609、3.91E - 13和0.9956。结果表明,该InDel多重体系在被调查人群以及千人基因组计划的26个群体中的大多数群体中具有高度信息性。数据还表明,具有单体碱基对扩展的多等位基因InDel标记物可用于法医应用。

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