Liu Qiu-Ling, Chen Ye-Fei, Huang Xiao-Ling, Liu Kai-Yan, Zhao Hu, Lu De-Jian
Faculty of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-Sen University, 74 Zhongshan 2nd Road, Guangzhou, 510080, People's Republic of China.
Int J Legal Med. 2017 May;131(3):653-656. doi: 10.1007/s00414-016-1441-1. Epub 2016 Sep 13.
Short tandem repeat (STR) analysis is a primary tool in forensic casework. Population data and mutation rates of STRs are very important for paternity testing and forensic genetics. However, the population data and mutation rates of STRs in Han nationality based on large samples have still not been fully described in China. In this study, the allelic frequencies, forensic parameters, and mutation rate of 19 STR loci (D19S433, D5S818, D21S11, D18S51, D6S1043, D3S1358, D13S317, D7S820, D16S539, CSFIPO, PentaD, vWA, D8S1179, TPOX, Penta E, TH01, D12S391, D2S1338, and FGA) based on the Goldeneye™ DNA ID System 20A in Southern China Han nationality among seven provinces were investigated. Furthermore, population stratification of Southern China Han nationality among seven provinces was established. The multidimensional scaling (MDS) plot based on genetic distances (Fst) showed that the studied populations can be clustered into two major groups. However, relationships among populations were weak (Fst < 0.0043). A total of 376 cases of mutation were detected from the 19 selected loci in 15,396 meioses. The average mutation rate for the 19 loci was estimated to be 1.3 × 10 per meiosis. The mutation was mainly single step; the paternal mutation rate was higher than the maternal; and paternal mutation rate increases with paternal age.
短串联重复序列（STR）分析是法医鉴定工作中的主要工具。STR的群体数据和突变率对于亲子鉴定和法医遗传学非常重要。然而，中国基于大样本的汉族STR群体数据和突变率仍未得到充分描述。在本研究中，调查了中国南方七省汉族人群中基于Goldeneye™ DNA ID System 20A的19个STR基因座（D19S433、D5S818、D21S11、D18S51、D6S1043、D3S1358、D13S317、D7S820、D16S539、CSFIPO、PentaD、vWA、D8S1179、TPOX、Penta E、TH01、D12S391、D2S1338和FGA）的等位基因频率、法医学参数和突变率。此外，还建立了中国南方七省汉族人群的群体分层。基于遗传距离（Fst）的多维标度（MDS）图显示，所研究的人群可聚类为两个主要群体。然而，群体间的关系较弱（Fst < 0.0043）。在15396个减数分裂中，从19个选定基因座共检测到376例突变。19个基因座的平均突变率估计为每减数分裂1.3×10。突变主要为单步突变；父系突变率高于母系；父系突变率随父亲年龄增加而升高。
