南京医科大学学报（自然科学版）2025，Vol.45Issue(9)：1293-1300,8.DOI:10.7655/NYDXBNSN250337
江苏地区汉族人群6 812例亲子鉴定案例中39个STR基因座突变特征分析
Mutation characteristics of 39 STR loci in 6 812 paternity testing cases from the Han population in Jiangsu province
摘要
Abstract
Objective:To analyze the mutation characteristics of 39 short tandem repeat(STR)loci in paternity testing from the Han population in Jiangsu province.Methods:A total of 6 812 paternity testing cases accepted by Forensic Identification Institute in the First Affiliated Hospital of Nanjing Medical University were collected from January 2019 to December 2024.The GoldenEyeTM DNA Identity System was used to detect mutations in 39 STR loci,and statistical analyses were performed on mutation rates,origin,and steps.Results:Among the 6 812 confirmed paternity testing cases,there were 1 680 trios and 5 132 duos.A total of 214 mutation events were observed,with an overall mutation rate of 2.52%.The highest mutation rate occurred in D12S391(0.329 7%,28/8 492),followed by Penta E,FGA,D21S11,D18S51,and D3S1358 with mutation rates exceeding 0.20%.Paternal mutations accounted for 189 cases,maternal for 20 cases,and 5 cases were of undetermined origin,with paternal mutations significantly outnumbering maternal ones(P<0.001).Among the mutations,203(94.86%)cases were single-step mutation,with 9 cases in two steps,and 2 cases in three steps observed at FGA and D21S11 loci.Conclusion:The STR mutation rate in paternity testing is relatively high(2.52%),showing gender and regional variations,which warrants attention in forensic practice.Our findings provide data support for the STR mutation status from the Han population in Jiangsu province and contribute to improving the accuracy of complex kinship identification.关键词
亲子鉴定/短串联重复序列/基因突变/法医遗传学Key words
paternity testing/short tandem repeat/gene mutation/forensic genetics分类
医药卫生引用本文复制引用
叶琴,居晓斌,吴蕾,陈群,徐婷..江苏地区汉族人群6 812例亲子鉴定案例中39个STR基因座突变特征分析[J].南京医科大学学报（自然科学版）,2025,45(9):1293-1300,8.基金项目
江苏省医学重点学科(ZDXK202239) （ZDXK202239）
江苏省基础研究专项资金(自然科学基金)青年基金(BK20241123) （自然科学基金）
