潮汕人群STR突变基因座等位基因频率及突变性别来源分析

发布时间：2018-02-26 23:09

本文关键词： 潮汕人群短串联重复序列突变来源等位基因　出处：《汕头大学医学院学报》2016年04期 　论文类型：期刊论文

【摘要】：目的:分析突变基因座等位基因突变率以及父、母源突变差异。方法:计算各突变基因座等位基因突变率及父、母源突变率,并用双脱氧链末端终止法对出现三等位基因现象的基因座进行等位基因测序。结果:观察到来自父源突变31例,母源2例,来源不确定突变事件3例。父源突变率介于0.000 0~0.005 9之间,平均0.002 1;母源0.001 6,平均0.000 2。在12个突变基因座中,除D7S820等位基因9的核心重复次数小于10之外,其余都在10以上。在Penta E基因座上发现三等位基因现象。结论:短串联重复序列突变现象普遍存在,突变性别来源以及各等位基因突变率均有差异,获取这些资料有利于更准确的对亲子鉴定结果做出评判。
[Abstract]:Objective: to analyze the allelic mutation rate of mutation locus and the difference of parent and maternal mutation. Methods: the allelic mutation rate and paternal and maternal mutation rate of each mutation locus were calculated. The alleles of the loci with three alleles were sequenced by dideoxychain terminating method. Results: 31 cases of paternal mutation and 2 cases of maternal origin were observed. Among 12 mutation loci, except for D7S820 allele 9, the core repeats of D7S820 allele 9 were less than 10. The other alleles were above 10. Three alleles were found in Penta E loci. Conclusion: mutations in short tandem repeats (STR) are common, and the source of mutations and alleles mutation rates are different. Obtaining these data will help to judge the results of paternity tests more accurately.
【作者单位】：汕头大学医学院分子生物学暨法医DNA物证实验室;
【分类号】：R394

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