School of Forensic Medicine, Shanxi Medical University, Jinzhong, 030619, Shanxi, China.
Chongxin Judicial Expertise Center, Wuhan, 430030, Hubei, China.
Int J Legal Med. 2020 Nov;134(6):2015-2027. doi: 10.1007/s00414-020-02291-3. Epub 2020 Apr 22.
Y-chromosomal short tandem repeat (Y-STR) polymorphisms are useful in forensic identification, population genetics, and human structures. However, the current Y-STR systems are limited in discriminating distant relatives in a family with a low discrimination power. Increasing the capacity of detecting Y chromosomal polymorphisms will drastically narrow down the matching number of genealogy populations or pedigrees. In this study, we developed a system containing 17 Y-STRs that are complementary to the current commercially available Y-STR kits. This system was constructed by multiplex PCR with expected sizes of 126-400 bp labeled by different fluorescence molecules (DYS715, DYS709, DYS716, DYS713, and DYS607 labeled by FAM; DYS718, DYS723, DYS708, and DYS714 labeled by JOE; DYS712, DYS717, DYS721, and DYS605 labeled by TAMRA; and DYS719, DYS726, DYS598, and DYS722 labeled by ROX). The system was extensively tested for sensitivity, male specificity, species specificity, mixture, population genetics, and mutation rates following the Scientific Working Group on DNA Analysis Methods (SWGDAM) guidelines. The genetic data were obtained from eight populations with a total of 1260 individuals. Our results showed that all the 17 Y-STRs are human- and male-specific and include only one copy of the Y-chromosome. The 17 Y-STR system detects 143 alleles and has a high discrimination power (0.996031746). Mutation rates were different among the 17 Y-STRs, ranging from 0.30 to 3.03%. In conclusion, our study provides a robust, sensitive, and cost-effective genotyping method for human identification, which will be beneficial for narrowing the search scope when applied to genealogy searching with the Y-STR DNA databank.
Y 染色体短串联重复序列(Y-STR)多态性在法医鉴定、群体遗传学和人类结构研究中具有重要作用。然而,目前的 Y-STR 系统在区分家族中亲缘关系较远的个体方面能力有限,鉴别力较低。增加检测 Y 染色体多态性的能力将大大缩小基因库或系谱人群的匹配数量。在本研究中,我们开发了一种包含 17 个 Y-STR 的系统,该系统与当前市售的 Y-STR 试剂盒互补。该系统通过多重 PCR 构建,预期大小为 126-400 bp,用不同荧光分子标记(FAM 标记 DYS715、DYS709、DYS716、DYS713 和 DYS607;JOE 标记 DYS718、DYS723、DYS708 和 DYS714;TAMRA 标记 DYS712、DYS717、DYS721 和 DYS605;ROX 标记 DYS719、DYS726、DYS598 和 DYS722)。该系统按照科学工作小组关于 DNA 分析方法的指导原则(SWGDAM)进行了广泛的灵敏度、男性特异性、种属特异性、混合样本、群体遗传学和突变率测试。遗传数据来自 8 个人群的 1260 个人。我们的结果表明,这 17 个 Y-STR 均为人类和男性特异性,且仅包含一个 Y 染色体拷贝。17 个 Y-STR 系统共检测到 143 个等位基因,鉴别力高(0.996031746)。17 个 Y-STR 的突变率不同,范围为 0.30-3.03%。总之,本研究为人类鉴定提供了一种稳健、敏感、经济高效的基因分型方法,将有助于缩小基因库搜索范围,在使用 Y-STR DNA 数据库进行系谱搜索时,缩小搜索范围。