内蒙古达斡尔族群体9个X-STR位点的遗传多态性及法医学应用价值评估

目的研究内蒙古达斡尔族群体9个X-STR位点(DXS6789、DXS101、DXS8378、DXS7132、DXS7133、DXS7423、DXS6804、DXS6799、HPRTB)的多态性分布及法医学应用价值。方法抽取内蒙古达斡尔族87名健康无关个体静脉血,提取DNA,经PCR扩增、变性聚丙烯酰胺凝胶电泳及银染显色技术进行等位基因分型;采用SPSS13.0软件计算各位点基因型频率和等位基因频率,并检验等位基因分布差异有无统计学意义;Genepop软件进行Hardy-Weinberg平衡检验;Fstat软件计算基因多态性、固定指数并检验固定指数偏离平衡的程度;Powerstats软件计算各种法医学应用指标。结果获得内蒙古达斡尔族群体9个X-STR位点等位基因频率分布的数据;进一步检验获得9个X-STR位点中DXS7133位点的多态性和分化程度较低;DXS7423和DXS7132位点在不同民族中基因分布差异无统计学意义。结论9个X-STR位点中,DXS6789、DXS101、DXS8378、DXS7132、DXS7423、DXS6804、DXS6799、HPRTB 8个位点有较高的遗传多态性和个体识别率,在个体识别和女孩的亲权鉴定中有较高应用价值,对疾病相关研究有实际意义。

Genetic polymorphisms of nine X chromosome STR loci in an Inner Mongolia Daur population and their forensic evaluation

Objective To investigate the allele and genotype frequencies of nine short tandem repeat(STR) loci on the X chromosome(DXS6789,DXS101,DXS8378,DXS7132,DXS7133,DXS7423,DXS6804,DXS6799 and HPRTB) of Daur individuals living in Inner Mongolia Autonomous Region of China.Methods The nine X-chromosomal STR loci were analyzed with PCR,followed by polyacylamide gel electrophoresis and silver staining.Software SPSS13.0,Genepop,Fstat and Powerstats were used to evaluate their polymorphism diversity and potential forensic application.Results We obtained allelic and genotypic frequencies for nine X-chromosomal STR in eighty-seven unrelated Daur individuals.Among the nine loci,DXS7133 showed less polymorphism and gene diversity in Daur population.Results of locus-to-locus comparisons showed that DXS7423 and DXS7132 had no significant differences between Daur population and other four Asian populations(Han,Hui,Tibetan and Korean).Conclusion Except DXS7133,the other eight X-chromosomal STR loci are appropriate for individual identification,paternity test involving a female child,and disease-related studies.