Lai Yong, Zhang Jing, Wang Yi-Xi, Wang Xue-Ding, Li Jia-Li, Wang Yin-Hui, Zeng Yan-Jun, Huang Min
Institute of Clinical Pharmacology, School of Pharmaceutical Sciences, Sun Yat-sen University, People's Republic of China.
Pharmazie. 2011 Feb;66(2):136-40.
The prevalent CYP3A5 3 and the functional multi-drug resistance gene (MDR1) C3435T show marked interethnic variation among Orientals, Caucasians and Africans. This study aimed to investigate the distribution of CYP3A53 and MDR1 C3435T among Chinese ethnic groups. Genotypes of the CYP3A53 and MDR1 C3435T were determined in 839 unrelated healthy Chinese subjects by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assays. Frequencies (P < 0.05) of CYP3A53 variant alleles observed in Uygur Chinese, Kazakh Chinese and Tibetan Chinese (88.1%, 84.5% and 80.7%, respectively) were Significantly higher than those in Han Chinese, Wa Chinese and Bai Chinese (67.3%, 56.3% and 70.2%, respectively). Significantly higher 3435T variant frequencies (P < 0.05) were observed in Uygur Chinese (58.4%) and Kazakh Chinese (56.8%) compared with Han Chinese (44.2%), Tibetan Chinese (43.9%), Wa Chinese (45.8%) and Bai Chinese (44.2%). These results indicate that there were marked ethnic differences in the mutant frequencies of CYP3A5*3 and MDR1 C3435T among Chinese ethnic groups. Frequencies of those variants observed in Uygur Chinese, Kazakh Chinese, Tibetan Chinese, Wa Chinese and Bai Chinese wereintermediate between those seen in Han Chinese and African-American.
常见的CYP3A5 3和功能性多药耐药基因（MDR1）C3435T在东方人、高加索人和非洲人之间存在显著的种族差异。本研究旨在调查中国不同民族中CYP3A53和MDR1 C3435T的分布情况。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析法，对839名无亲缘关系的健康中国受试者进行CYP3A53和MDR1 C3435T基因分型。维吾尔族、哈萨克族和藏族中国人群体中观察到的CYP3A53变异等位基因频率（分别为88.1%、84.5%和80.7%）显著高于汉族、佤族和白族（分别为67.3%、56.3%和70.2%）（P<0.05）。与汉族（44.2%）、藏族（43.9%）、佤族（45.8%）和白族（44.2%）相比，维吾尔族（58.4%）和哈萨克族（56.8%）中观察到的3435T变异频率显著更高（P<0.05）。这些结果表明，中国不同民族中CYP3A5*3和MDR1 C3435T的突变频率存在显著的种族差异。在维吾尔族、哈萨克族、藏族、佤族和白族中观察到的这些变异频率介于汉族和非裔美国人之间。
