重庆地区汉族人群X染色体4个STR基因座的遗传多态性及其法医学意义

Genetic polymorphisms of four STR loci on chromosome X and their forensic application in Chongqing han population

目的:研究重庆地区汉族人群无关个体X染色体上DXS7132、DXS6789、HPRTB、DXS8378基因座的遗传多态性及其法医学意义。方法:利用PCR和非变性聚丙烯酰胺凝胶垂直电泳对中国重庆地区无亲缘关系汉族个体4个X-STR基因座进行分型。用直接计数法计算基因频率、基因型频率,检验女性基因型频率分布是否符合Hardy-Weinberg平衡,并计算法医学常用各种概率。结果:4个短串联重复序列(Shorttandem repeats,STR)基因座在重庆地区汉族群体均具有遗传多态性,女性的基因型频率分布符合Hardy-Weinberg平衡。结论:这4个基因座可用于重庆地区法医学个人识别和亲子鉴定,并为人类群体研究提供了中国重庆汉族群体X染色体4个STR基因座的数据。

Objective：To investigate genetic polymorphism of four X chromosome short tandem repeats（X-STR）loci（DXS7132、 DXS6789,HPRTB,DXS8378）in Chongqing Han population.Methods：EDTA-blood samples were collected from the unrelated individuals in Chongqing.After being extracted with Chelex-100 method,the DNA samples were amplified by PCR technique.The PCR products were analyzed by PAGE,genotyped with silver stain method.Hardy-Weinberg equilibrium was tested,and then used direct counting method to calculate allele and genotype frequency of these four loci.Results：The polymorphisms of all four STR loci were obtained from 120 unrelated females and 91 unrelated males from Chinese Han group.χ2 tests on the genotype frequencies in female reveal that genotype frequencies in females did not depart from Hardy—Weinberg equilibrium.Conclusion：It was suggested that DXS7132,DXS6789,HPRTB,DXS8378 locus are suitable for individual identification and paternity testing,and we provide new selectable STR markers for chromosome X haplotype in forensic application.