西安汉族X染色体上6个STR位点的遗传多态性

Genetic Polymorphism Analysis of 6 STR Loci on the X Chromosome in Xi′an Han Population

目的调查西安汉族人群6个位于X染色体上的短串联重复序列:DXS8378、DXS7132、DXS6789、DXS101、HPRTB和DXS7423的基因及基因型频率分布。方法应用PCR和变性聚丙烯酰胺凝胶电泳及银染技术检测结果。结果在120例女性无关个体中,DXS8378、DXS7132、DXS6789、DXS101、HPRTB和DXS7423分别检出5、6、11、10、8和4个等位基因;分别检出10、17、29、32、22和7种基因型;此6个位点女性的基因型频率分布均符合Hardy-Weinberg平衡。结论此6个X染色体STR位点均有较高的个体识别率,在个体识别和女孩的亲权鉴定中有应用价值,对疾病相关研究有实际意义。

Objective To investigate the alleles and genotypes frequency of 6 short tandem repeat loci （DXS8378,DXS7132,DXS6789,DXS101,HPRTB and DXS7423） on the X chromosome in Han population. Methods The six X-chromosome STR loci were analyzed by PCR following polyacylamide gel electrophoresis and silver stain. Results Among 120 females from Xi＇an Han population, the number of alleles in the 6 loci （DXS8378,DXS7132,DXS6789,DXS101,HPRTB and DXS7423） were 5,6,11,10,8,and 4 respectively; the number of genotypes in the 6 loci were 10,17,29,32,22,and 7 respectively; Exact tests demonstrated genotype frequencies in females had no departure from Hardy-Weinberg equilibrium. Conclusion The six X-chromosome STR loci are appropriate for individual identification, paternity testing involving a female child and for study on related disease.