2318例亲子鉴定中的基因突变观察和分析

目的观察IdentifilerTM系统15个STR基因座等位基因突变的现象及特点。方法对2318例确认亲子关系的案例进行分析,筛选等位基因突变案例,确定突变等位基因的来源,统计各STR基因座的突变率,分析突变的规律及其特点。结果在15个STR基因座中共观察到61个突变事件,STR基因座的突变率介于0～0.22%。突变案例的突变基因座数目为1到2个,父源性突变与母源性突变比例约为4∶1。结论 STR基因座等位基因突变现象较为常见。当出现1-2个STR基因座不匹配时,应增加其它稳定性、多态性较好的STR基因座进行检测。

Observation and analysis of allele mutation in 2318 paternity testing

Objective: To observation the phenomena and characteristics of the mutations in IdentifilerTM system 15 STR loci.Method: A total of 2318 parentage confirmed cases were analyzed.The mutation events were screened.The mutation rates of STR loci were calculated.The rule and feature of mutation were analyzed.Result: A total of 61 mutation events were observed in 15 STR loci,The mutation rate was between 0-0.22%.The number of mutation loci was between 1 and 2 for 1 case,the ratio of paternal versus maternal mutation was about 4 ∶ 1.Conclusion: STR mutation events were common in paternity testing.The information of 1-2 mutated STR loci should be addition to other stable STR loci with high polymorphism.