中国广东籍汉族人细胞色素P450_2E_1基因5'侧翼区多态性  

Polymorphisms in the 5′ Flanking Region of Cytochrome P450 2E 1 Gene in Guangdong Hans

作　　者：王建[1,2] 刘焯霖[1,2] 黎锦如 邵明[1,2] 潘锡榜 陈彪[1,2] 

机构地区：[1]中山医科大学附属第一医院神经科 [2]美国帕金森病研究所

出　　处：《中山医科大学学报》1999年第1期29-31,共3页Academic Journal of Sun Yat-sen University of Medical Sciences

摘　　要：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（ＰＣＲＲＦＬＰ）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０８５４，０１４６；基因型Ｃ１Ｃ１、Ｃ１Ｃ２、Ｃ２Ｃ２的比率分别为０７３２、０２４４、００２４，符合ＨａｒｄｙＷｅｉｎｂｅｒｇ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 determine the distribution of genetic polymorphisms in the 5′ flanking region of the cytochrome P450 2E 1(CYP 2E 1)in Guangdong Hans. Methods:82 normal Guangdong Hans were studied with polymerase chain reaction(PCR)and RsaⅠ or PstⅠ restriction fragment length polymorphic(RFLP)techniques. Results: The allelic frequencies of C 1(RsaⅠ+,PstⅠ )and C 2(RsaⅠ ,PstⅠ+)alleles were 0 854 and 0 146. The genotypic frequencies of C 1C 1、C 1C 2、C 2C 2 genotypes were 0.732,0.244 and 0.024,respectively,which met Hardy Weinberg equilibrium. Conclusions: The results suggest that the genotypic and allelic frequencies of CYP 2E 1 5′ flanking region polymorphisms in Guangdong Hans are significantly different from those of European populations.

关 键 词：细胞色素P-450 遗传学 多态性 PCR-RFLP 

分 类 号：Q343[生物学—遗传学] Q346.5