东莞汉族群体20个常染色体短串联重复序列的多态性及突变分析  

Polymorphisms and mutations of 20 autosomal STR loci in Han population of Dongguan city

作　　者：林汉光 邝文健 许传超 唐剑频 LIN Han-guang;KUANG Wen-jian;XU Chuan-chao;TANG Jian-pin(Department of Forensic Medicine,Guangdong Medical University,Dongguan 523808,China)

机构地区：[1]广东医科大学法医学系,广东东莞523808

出　　处：《广东医科大学学报》2021年第2期140-143,共4页Journal of Guangdong Medical University

基　　金：广东省自然科学基金(No.2015A030310456);广东医科大学科研基金(No.M2017018)。

摘　　要：目的分析东莞汉族群体20个常染色体短串联重复序列(STR)的多态性和突变率。方法应用Power-Plex^(■)21试剂盒复合扩增系统检测东莞汉族3337例无关个体和1865个家系样本,用Powerstates软件统计各基因座的遗传学参数。结果20个STR基因组等位基因分布均符合Hardy-Weinberg平衡律;个体识别概率、非父排除率、杂合度分别为0.7830~0.9860、0.3043~0.8069、0.6110~0.9056,系统累积非父排除率和累积个体识别率分别达0.9999999973和0.999999999999999999999999969;比较其他16个群体的等位基因分布,发现19种稀有等位基因,基因频率分布与广东汉族分布无明显差异,与其他15个群体均存在差异。本群体共观察到84次突变,包括81次1步突变、2次2步突变、1次3步突变。父、母源性突变比例为5.6∶1,高于其他群体;FGA和D12S391突变率较高,与西南汉族群体相似。结论20个STR基因座在目标群体中有较好的法医学应用价值,等位基因频率分布及突变情况具有一定的群体特异性。Objective To analyze the polymorphisms and mutations of 20 autosomal short tandem repeat(STR)loci in Han population of Dongguan city.Methods A total of 3337 unrelated individuals and 1865 pedigrees in Han population of Dongguan city were genotyped using Powerplex^(■)21 system.The genetic parameters of 20 STR loci were analyzed by Powerstates software.Results Allelic distributions of 20 STR loci accorded with Hardy-Weinberg equilibrium.The discrimination power,probability of paternity exclusion,and heterozygosity were respectively 0.7830-0.9860,0.3043-0.8069,0.6110-0.9056,while cumulative probability of paternity exclusion and discrimination power were respectively 0.9999999973 and 0.999999999999999999999999969.Compared with 16 other populations,19 rare alleles were found.The allele distribution was different from 15 other populations and comparable in Guangdong Province.Eighty-four mutations were observed in all pedigrees,including 81 one-step,2 two-step and 1 three-step mutations.Paternal/maternal mutation ratio was 5.6∶1 and superior to other populations.Mutation rate of FGA and D12S391 was higher than other STR loci,similar to that in Han populations of Southwest China.Conclusion These loci are feasible of forensic application in target population.Allelic frequency and mutation rate are characteristic of populations.

关 键 词：短串联重复序列 多态性 突变 

分 类 号：R440[医药卫生—诊断学]