中国南方汉族人群D2S1338和D19S433基因座遗传多态性及其应用

Polymorphism of D2S1338 and D19S433 Loci in Southern Chinese Han Nationality Population and Its Application

为了研究中国南方汉族人群中D2S1338和D19S433基因座遗传多态性,并应用于常规法医学亲子鉴定,采用Chelex-100法提取基因组DNA,IdentifilerTM试剂盒对D2S1338等15个常染色体STR基因座进行复合扩增,扩增产物经ABI3100DNA测序仪电泳并收集电泳信息,用GeneScan3.0和Genetype3.7软件分析受检者的STR基因型,统计分析D2S1338和D19S433基因座的基因频率等基础数据。结果表明获得了D2S1338、D19S433两个STR基因座各等位基因的基因频率、杂合度(H)、个体识别率(Dp)、多态信息量(PIC)及非父排除率(PE)等基础数据;基因频率经χ2检验,符合Hardy-Weinberg平衡。观察185例认定亲子关系案例计370次减数分裂,未观察到D2S1338、D19S433基因的突变。结论D2S1338和D19S433基因座在中国南方汉族人群中有较好的基因型分布,多态信息量高,突变率低,适用于作为法医学亲子鉴定、个体识别的遗传标记。

This study was aimed to investigate the polymorphism of D2S1338 and D19S433 loci in Southern Chinese Han nationality population, and to evaluate its forensic application. The DNA was extracted by chromatography on chelex-100. Fifteen STR loci （D2S1338, D19S433 etc. ） were amplified by IdentifilerTM kit and analyzed by 3100 genetic analyzer. The softwares of analysis were GeneScan 3.0 and Genetype 3.7. The results indicated that the allele frequencies of H,DP,PIC,PE of D2S1338 and D19S433 loci were obtained . The allele frequency of samples were in Hardy- Weinberg equilibrium by ~2 test. No mutation was found on D2S1338 and D19S433 loci in 370 cases of meiosis. It is concluded that the D2S1338 and D19S433 loci are high polymorphic and their mutation rates in Southern Chinese Han nationality population are low. Their good distribution is suitable for forensic individual identification and paternity testing.