目的 观察20个常染色体STR基因座突变在河南汉族人群中的分布情况.方法 从3011例确认亲子关系的亲子鉴定案例中筛查基因突变事件,确定突变来源,统计各STR基因座的突变率,分析突变规律并与部分不同地区的人群STR基因座突变情况进行比较分析.结果 在20个STR基因座中观察到19个基因座的发生的76次突变事件,平均突变率为0.08%累计突变率达到1.6629%;父、母源性突变的比率大致为8:1;河南汉族人群在Penta E和D12S391基因座突变率明显低于北方汉族人群(P<0.05);在D6S1043、CSF1PO和D12S391基因座突变率明显低于广东人群(P<0.05);在CSF1PO基因座突变率明显低于云南汉族人群(P<0.05).结论 STR基因座突变现象较为常见,不同基因座的突变率存在着明显的地区差异.%Objective To investigate the mutation phenomenon of 20 autosomal STR loci in Henan Han population. Methods A total of 3011 parentage confirmed cases were collected to screen mutation events, ascertain the source of mutation, calculate mutation rate, analyze mutation rules and compare with the mutation condition of populations in different regions. Results 76 mutation events were observed in 19 STR loci, the average and accumulative mutation rate reached to 0.08% and 1.6629%, respectively. The ration of paternal versus maternal mutation was 8:1. Mutation rates of Penta E and D12S391 loci in Henan Han population were lower than the Han population of northern China(P<0.05); the mutation rate of CSF1PO locus were lower than Guangdong population and Yunan Han population(P<0.05); the mutation rates of D6S1043 and D12S391 loci were lower than Guangdong population(P<0.05). Conclusion STR mutation events were common in paternity testing. Region differences among mutation rate were significant.
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