【摘要】 目的了解CYP3A5的基因多态性在健康汉族、维吾尔族和哈萨克族人群中的分布,并与其他种族进行比较明确种族差异。方法用PCR-RFLP的方法检测汉族、维吾尔族和哈萨克族CYP3A5*3等位基因突变位点的分布情况。计算各民族基因型频率,并与已报道的其他民族的基因型频率和等位基因频率就进行比较。结果 CYP3A5基因在汉族、维吾尔族和哈萨克族3个民族中最常见的基因型是CYP3A5*3/*3,频率依次为汉族(50.4%)、维吾尔族(76.1%)和哈萨克族(70.9%)。汉族*1/*1与*1/*3基因型总和的频率(49.5%)显著高于维吾尔族(23.9%)和哈萨克族(28.9%),而后两者之间没有差异。结论汉族、维吾尔族和哈萨克族的CYP3A5基因型分布有明显的种族差异。汉族的基因突变发生频率与其他亚洲人相似,与高加索人差异显著;而维吾尔族和哈萨克族的发生频率介于亚洲人和高加索人之间,更接近高加索人的频率。更多还原

【Abstract】 Objective To investigate the allele frequencies of CYP3A5 gene in Han Chinese,Uygur Chinese,and Kazakh Chinese,and compared with other ethnic groups.Methods CYP3A5 * 3 was tested using the polymerase chain reactionrestriction fragment length polymorphism method.Frequencies of genotypes and alleles were calculated and compared with those in other populations.Results The most common genetic type of CYP3A5 genes is CYP3A5 * 3 / * 3,with the frequency in the Han nationality(50.4%),Uygur(76.1%) and Kazak(70.9%).The sum of frequency of CYP3A5* 1 / * 1 and* 1 / * 3 genotype in Han(49.5%) was statistically higher than that in Uygur(23.9%) and Kazak(28.9%),and there was no difference between the latter two.Conclusion There are marked ethnic differences in the mutant frequencies of CYP3A5 between Chinese and other ethnic groups.The frequency of CYP3A5 polymorphism in Uygur Chinese and Kazakh Chinese was consistent with that reported for the Caucasian population.更多还原