Zhou Yuxiang, Shao Chengchen, Li Liming, Zhang Yaqi, Liu Baonian, Yang Qinrui, Tang Qiqun, Li Shilin, Xie Jianhui
Department of Forensic Medicine, Shanghai Medical College of Fudan University, Shanghai, 200032, China.
Ministry of Education Key Laboratory of Contemporary Anthropology and State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, Fudan University, Shanghai, 200433, China.
Forensic Sci Int Genet. 2018 Jan;32:e1-e4. doi: 10.1016/j.fsigen.2017.11.003. Epub 2017 Nov 11.
The analysis of Y chromosomal short tandem repeats (Y-STRs) provides important information that can be used to forensic investigation and population studies. In this study, typing of 29 Y-STRs included in the PowerPlex Y23 system (PPY23) and Yfiler™ Plus system (Yfiler plus) was performed on 843 unrelated male samples from Han population in Shanghai. Besides null, duplicate, and intermediate alleles reported in previous studies, an allele of 10 at DYS643 with a 2-base deletion in the flanking region was initially observed. The gene diversity (GD) values of the 29 Y-STRs range from 0.4186 at DYS438 to 0.9653 at DYS385a/b. The haplotype diversity of two commonly used haplotype sets, PPY23 set and Yfiler plus set is 0.999980 and 0.999997, respectively. Pairwise genetic distances between Han population in Shanghai and other Han populations estimated using Yfiler plus set are slightly larger than that between other Han populations. Visualization of pairwise genetic distances between 17 worldwide populations using multidimensional scaling (MDS) demonstrates the distribution of populations according to their ethno-geographic patterns. Compared with Yfiler set, Yfiler plus set appears to have a relatively high population discrimination capacity for these tested populations. Altogether, these results can provide useful information of Y-STRs for forensic investigation and population studies.
Y染色体短串联重复序列（Y-STRs）分析提供的重要信息可用于法医调查和群体研究。本研究对来自上海汉族的843份无关男性样本进行了PowerPlex Y23系统（PPY23）和Yfiler™ Plus系统（Yfiler plus）中包含的29个Y-STRs分型。除了先前研究中报道的无效等位基因、重复等位基因和中间等位基因外，最初还观察到DYS643处一个侧翼区域有2个碱基缺失的10等位基因。29个Y-STRs的基因多样性（GD）值范围从DYS438的0.4186到DYS385a/b的0.9653。两个常用单倍型组，即PPY23组和Yfiler plus组的单倍型多样性分别为0.999980和0.999997。使用Yfiler plus组估计的上海汉族与其他汉族群体之间的成对遗传距离略大于其他汉族群体之间的距离。使用多维尺度分析（MDS）对17个全球群体之间的成对遗传距离进行可视化，展示了各群体根据其民族地理模式的分布情况。与Yfiler组相比，Yfiler plus组对这些测试群体似乎具有相对较高的群体鉴别能力。总之，这些结果可为法医调查和群体研究提供Y-STRs的有用信息。
