常染色体STR突变率的研究

发布时间：2018-06-08 03:25

本文选题：短串联重复序列(STR) + 亲子鉴定　；参考：《中山大学学报(医学科学版)》2013年03期

【摘要】：【目的】观察10 000例肯定亲子关系的三联体案例中STR基因座的突变事件,获取STR基因座的突变率资料。【方法】采用PowerPlexTM16系统进行15个STR基因座的检测,从10 000例肯定亲子关系的三联体案例中筛查出包含STR基因座突变的案例,确定突变等位基因的来源和步数,统计各STR基因座特异性、父源和母源特异性及等位基因特异性的突变率及其95%置信区间,分析突变的特点。【结果】10 000例三联体亲子鉴定中检出368例发生突变的案件,共计379个突变事件。突变案件的发生率为3.68%,15个STR基因座的突变率为0.10×10-3～2.30×10-3,平均突变率为1.26×10-3。各基因座的父源和母源突变率分别为0.05×10-3～1.35×10-3和0.05×10-3～0.70×10-3。统计FGA、vWA和D18S51等三个基因座一步突变的等位基因突变率分别为5.0×10-5～40.0×10-5、5.0×10-5～50.0×10-5和5.0×10-5～35.0×10-5。15个基因座的父源/母源突变比值为1.3∶1～17.0∶1,平均为3.57∶1。【结论】STR基因座突变现象普遍存在于亲子鉴定中,各基因座的突变率、父源和母源的突变率、各等位基因的突变率均存在差异,获取这些数据资料对于更准确地评判亲子鉴定结果非常必要。
[Abstract]:[objective] to observe the mutation events of STR loci in 10 000 confirmed paternity triad cases, and obtain the mutation rate of STR loci. [methods] 15 STR loci were detected by PowerPlexTM16 system. Cases containing STR locus mutations were screened from 10 000 confirmed paternity triad cases, the source and step number of mutant alleles were determined, and the specificity of STR loci was counted. The mutation rate of paternal and maternal specificity and allele specificity and its 95% confidence interval were analyzed. [results] 368 cases (379 mutation events) were detected in 10 000 triplet paternity tests. The mutation rate of 15 STR loci was 0.10 脳 10-32.30 脳 10-3, and the average mutation rate was 1.26 脳 10-3. The parent and maternal mutation rates of each locus were 0.05 脳 10 ~ (-3) and 0.70 脳 10 ~ (-3), respectively. The allelic mutation rates of FGAVWA and D18S51 were 5.0 脳 10 ~ (-5), 40.0 脳 10 ~ (-5), 5.0 脳 10 ~ (-5), 50.0 脳 10 ~ (-5) and 5.0 脳 10 ~ (-5) N ~ (35) 脳 10 ~ (-5), respectively. The ratio of parent / parent mutation was 1.3: 117.01, with an average of 3.57: 1. [conclusion] STR locus mutation is common. In paternity testing, The mutation rate of each locus, the mutation rate of parent and mother, and the mutation rate of alleles are all different. It is necessary to obtain these data in order to judge the results of paternity test more accurately.
【作者单位】：中山大学中山医学院法医学系;上海市法医学重点实验室司法部司法鉴定科学技术研究所;
【基金】：国家自然科学基金(81273347) 上海市法医学重点实验室资助项目(12DZ2271500) 2012年高校基本科研业务费中山大学青年教师培育项目(09YKPY78)
【分类号】：R346

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