【作者】 王一西； 谢志红； 叶丽卡； 李嘉丽； 张羽；

【Author】 WANG Yi-xi;XIE Zhi-hong;YE Li-ka;LI Jia-li;ZHANG Yu;The Second Affiliated Hospital of Guangzhou Medical University;Institute of Clinical Pharmacology,Sun Yat-sen University;

【机构】 广州医学院第二附属医院； 中山大学临床药理研究所；

【摘要】 目的了解MDR1-C3435T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MDR1-C3435T等位基因突变位点的分布情况。计算各民族基因型频率,并与己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 MDR1-C3435T基因在汉族、维吾尔族和哈萨克族三个民族中最常见的等位基因是MDR1-3435T,频率依次为汉族(43.3%)、维吾尔族(58%)和哈萨克族(70.9%)。等位基因MDR1-3435T在汉族中的发生频率显著低于维吾尔族和哈萨克族,而维吾尔族和哈萨克族之间则无明显差异。结论汉族、维吾尔族和哈萨克族的MDR1-C3435T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 MDR1-C3435T gene in Han Chinese and compared with Uygur Chinese and Kazakh Chinese.Method MDR1-C3435T was tested using the polymerase chain reaction-restriction fragment length polymorphism method.Frequencies of genotypes and alleles were calculated and compared with those in other populations.Result The most common allele type of MDR1-C3435T genes is MDR1-3435T,with the frequency in the han nationality(43.3%),uygur(58%) and kazak(56.4%).The frequency of MDR1-3435T genotype in han was statistically higher than that in uygur and kazak,and no difference between the latter two.Conclusion There were marked ethnic differences in the mutant frequencies of MDR1-C3435T between Chinese and other ethnic groups.The frequency of MDR1-C3435T polymorphism in Uygur Chinese and Kazakh Chinese was consistent with that reported for the Caucasion population.更多还原