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引物结合区点突变致D18S51等位基因丢失
引用本文:林汉光,董建国,钟思婷,唐剑频. 引物结合区点突变致D18S51等位基因丢失[J]. 刑事技术, 2020, 0(2): 201-203
作者姓名:林汉光  董建国  钟思婷  唐剑频
作者单位:广东医科大学法医学系;上海市美吉司法鉴定所
基金项目:广东医学院科研基金面上培育项目(M2013015)。
摘    要:目的确定D18S51基因座是否存在等位基因缺失及其原因。方法应用多个STR试剂盒检测检材以确定D18S51基因座的等位基因缺失情况;重新设计引物对所测D18S51基因座进行单独扩增,并对缺失的等位基因进行测序。结果该案例被检个体的D18S51侧翼序列引物结合区发生突变,致等位基因丢失。结论亲权鉴定时出现不符合孟德尔遗传规律现象,应使用多个试剂盒检测验证以避免父权误判。

关 键 词:短串联重复多态性  等位基因丢失  突变

Allelic Dropout of D18S51 from Single Nucleotide Mutation in the Primer Zone
LIN Hanguang,DONG Jianguo,ZHONG Siting,TANG Jianpin. Allelic Dropout of D18S51 from Single Nucleotide Mutation in the Primer Zone[J]. Forensic Science and Technology, 2020, 0(2): 201-203
Authors:LIN Hanguang  DONG Jianguo  ZHONG Siting  TANG Jianpin
Affiliation:(Department of Forensic Medicine,Guangdong Medical University,Dongguan 523808,Guangdong,China;Shanghai Meiji Firm of Judicial Identifi cation,Shanghai 201200,China)
Abstract:Objective To ascertain the allelic dropout of D18S51 locus.Methods The samples,found of allelic dropout in D18S51 locus,were genotyped by different STR kits so that the allele 19 was targeted to have it sequenced.Results A mutation was observed from single one nucleotide in the primer zone at the fl anking region of allele 19 within D18S51 locus.Conclusions The different STR kits should be used to genotype the samples for parentage test in order to avoid misjudging patriarchy when paternity testing reveals inconformity to the Mendel’s law of segregation.
Keywords:short tandem repeats(STR)  allelic dropout  mutation
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