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目的:探讨中国广东籍汉族人细胞色素P4502E1基因5′侧翼区的多态性分布规律。方法:利用聚合酶链反应和RsaⅠ、PstⅠ限制性片段长度多态性(PCRRFLP)技术对82名正常中国广东籍汉族人的细胞色素P4502E1基因5′侧翼区的多态性进行了检测。结果:82名正常中国广东籍汉族人的细胞色素P4502E1基因5′侧翼区C1(RsaⅠ+,PstⅠ)、C2(RsaⅠ,PstⅠ+)等位基因频率分别为0854,0146;基因型C1C1、C1C2、C2C2的比率分别为0732、0244、0024,符合HardyWeinberg平衡分布。结论:中国广东籍汉族人细胞色素P4502E1基因5′侧翼区RsaⅠ和PstⅠ多态性分布规律与欧美人显著不同。
Objective: To investigate the distribution of 5 ’flanking region of cytochrome P4502E1 gene in Guangdong Han nationality in China. Methods: Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RsaⅠ) and restriction fragment length polymorphism (PCR-RFLP) were used to detect the polymorphisms in the 5 ’flanking region of cytochrome P4502E1 gene in 82 normal Han Chinese from Guangdong. Results: The frequencies of C1 (RsaⅠ +, PstⅠ), C2 (RsaⅠ, PstⅠ +) alleles in the 5 ’flanking region of cytochrome P4502E1 gene in 82 normal Guangdong Han Chinese were 0854 and 0146, respectively. The genotype The ratios of C1C1, C1C2 and C2C2 were 0732, 0244 and 0024, respectively, in line with the HardyWeinberg equilibrium distribution. CONCLUSION: The distribution of Rsa I and Pst I polymorphisms in the 5 ’flanking region of cytochrome P4502E1 gene in Chinese Han nationality in Guangdong Province of China is significantly different from that in Europe and the United States.