X染色体短串联重复序列基因座的遗传多态性

目的研究DXS7424基因座在山西汉族人群中的遗传多态性。方法随机抽取山西汉族人群250名无关个体静脉血样,乙二胺四乙酸抗凝后用酚-氯仿法提取DNA,经聚合酶链反应扩增,扩增产物用8%非变性聚丙烯酰胺凝胶电泳和银染法进行检测分型,对女性基因型频率分布进行Hardy-Weinberg平衡检验,并计算法医学常用参数。结果在山西汉族人群250名无关个体中共检出7个等位基因。等位基因频率分布在0.008～0.340。女性基因型频率分布符合Hardy-Weinberg平衡。个体识别率、多态性信息含量分别为0.7367、0.7039。结论DXS7424基因座在山西汉族人群中具有较高的遗传多态性,可用于法医学涉及女性的个人识别和亲权鉴定,并为X染色体短串联重复序列数据库的建立提供了山西汉族人群的遗传学数据。

Genetic polymorphism of X chromosome short tandem repeats locus

Objective To evaluate the polymorphism of DXS7424 locus in Shanxi Han population.MethodsBlood samples were collected from 250 unrelated Shanxi Han people.DNA was extracted using phenol-chloroform method.The PCR products were detected by 8% undenatured polyacrylamide gel electrophoresis and silver staining method.Hardy-Weinberg equilibrium of female genotype frequencies was tested,and several forensically interested values were calculated.ResultsSeven alleles were found in 250 unrelated Shanxi Han population with frequencies ranging from 0.008 to 0.340.χ2 test demonstrated that genotype frequencies in females did not deviate from Hardy-Weinberg equilibrium.The discrimination power was 0.736 7.The polymorphism information content(PIC)was 0.703 9.ConclusionDXS7424 is a highly polymorphic locus in Shanxi Han population and could be useful in solving female involved individual identification and parentage test.And the data obtained from Shanxi Han population could be useful for establishing the X-short tandem repeat genetic database.