【摘要】 目的：分析江苏省汉族人群亲子鉴定中39个短串联重复序列（short tandem repeat,STR）基因座的突变特征。方法：选取2019年1月—2024年12月南京医科大学第一附属医院司法鉴定所受理的6 812例亲子鉴定案例，采用GoldenEye^TMDNA身份鉴定系统检测39个STR基因座的突变情况，对突变率、突变来源和步数进行统计分析。结果：在6 812例认定亲子关系的案例中，三联体1 680例，二联体5 132例。共发现214例突变案例，总突变率2.52%。其中，D12S391基因座突变率最高，达0.329 7%（28/8 492），其次为Penta E、FGA、D21S11、D18S51、D3S1358基因座，突变率均在0.20%以上。突变来源分析中，父源突变189例，母源突变20例，不明原因突变5例，父源突变显著高于母源（P<0.001）。203例（94.86%）突变为一步突变，二步突变9例，FGA和D21S11基因座三步突变各1例。结论：亲子鉴定中39个STR基因座总突变率较高，达2.52%，具有性别和地区差异，在亲子鉴定实践中需加以重视，该结果为江苏地区汉族人群STR基因座突变情况提供数据支撑，有助于提升复杂亲缘关系鉴定的准确性。更多还原

【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 GoldenEye^TMDNA 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 for189 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.更多还原