机构地区: 中山大学中山医学院法医学系
出 处: 《中山大学学报(医学科学版)》 2010年第1期13-16,共4页
摘 要: 【目的】观察24个常用STR基因座等位基因突变的现象及特点。【方法】对5084例肯定亲权关系的案例进行分析,筛选等位基因突变事件,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24个STR基因座中共观察到172个突变事件,STR基因座的突变率介于0~0.492%。每个突变案例的突变基因座数目为1~3个。突变模式符合逐步突变模式,最多突变步数为四步。父系突变与母系突变比例为3.55:1。【结论】STR基因座等位基因突变现象较为常见。当出现STR基因座突变时,应结合突变的STR基因座信息计算PI值。 【Objective】 To analyze the phenomena and characteristics of the mutations in 24 short tandem repeat (STR) loci.【Methods】 A total of 5 084 parentage confirmed cases were analyzed.The mutation events were screened.The sources of mutant alleles were ascertained.The mutation rates of STR loci were calculated.The rule and feature of mutation were analyzed.【Results】 A total of 172 mutation events were observed in 24 STR loci.The mutation rate was between 0-0.492%.The number of mutation loci was between 1 and 3 for 1 case.The mutation model was accordant with stepwise mutation model.The maximum mutation step was four.In addition,the ratio of paternal versus maternal mutation was 3.55: 1.【Conclusion】 STR mutation events were common in paternity testing.The information of mutated STR loci should be considered and included when calculating PI value.