Population study and mutation analysis for 28 short tandem repeat loci in southwest Chinese Han population
Population study and mutation analysis for 28 short tandem repeat loci in southwest Chinese Han population
复制标题
中国西南汉族人群28个短串联重复基因座的群体研究及突变分析
DOI：
10.1016/j.jflm.2016.08.008
复制
发表时间：
2016
影响因子：
1.5
通讯作者：
Zhang Lin
中科院分区：
文献类型：
--
作者：
Su Qin;Jin Bo;Luo Haibo;Li Yingbi;Wu Jin;Yan Jing;Hou Yiping;Liang Weibo;Zhang Lin
短串联重复序列（STR）系统是现代司法实践中应用最广泛的遗传标记。由于分子结构相对不稳定，STRs具有较高的突变率。在本研究中，我们报告了在5569例三胞胎和二胞胎亲子鉴定中发现的13个CODIS和15个非CODIS STR位点的169个突变事件。结果表明，不同群体的位点特异性突变率、最长完美重复序列（LRPR）的几何平均值和杂合度存在差异。结合先前发表的数据，建立了中国西南汉族人群13个CODIS和15个非CODIS STR基因座的等位基因频率和位点特异性突变率的法医数据集。突变率数据在解释法医个体鉴定和亲子鉴定方面具有重要意义。
Short tandem repeat (STR) system is the most widely used genetic markers in modem forensic practice. Because of the relatively unstable molecular structure, STRs show a high mutation rate. In the current study, we report 169 mutation events of 13 CODIS and 15 non-CODIS STR loci that were found in 5569 cases of trios and duos paternity test. Our result indicated that locus-specific mutation rate varied among different populations, geometric means of the longest run of perfect repeats (LRPR) and heterozygosity. Along with previous published data, a forensic dataset for allele frequencies and locus-specific mutation rates of 13 CODIS and 15 non-CODIS STR loci from southwest Chinese Han population has been established. The mutation rate data have important implications in interpreting forensic individual identification and paternity testing.