广州地区汉族人群细胞色素P450 1A1和细胞色素P450 2E1基因多态性

目的 探讨广州地区汉族人群细胞色素Ｐ４５０ １Ａ１（ＣＹＰ１Ａ１）和细胞色素Ｐ４５０ ２Ｅ１（ＣＹＰ２Ｅ１）基因的多态性分布规律。方法 用ＰＣＲ－ＲＦＬＰ和等位基因特异性扩增技术，对１５０名广州地区汉族正常人的ＣＹＰ１Ａ１和ＣＹＰ２Ｅ１基因多态性进行了检测，并与其他人群进行了比较。结果 ＣＹＰ１Ａ１基因３’端非翻译区的Ｍｓｐ１多态位点ｍ１（ＭＳＰⅠ－）、ｍ２（ＭｓｐⅠ＋）等位基因频率分别为６２．３

Cytochrome P450 1A1 and cytochrome P450 2E1 gene polymorphisms in Guangzhou Hans

OBJECTIVE: To determine the distribution of cytochrome P450 1A1(CYP1A1) and cytochrome P450 2E1(CYP2E1) gene polymorphisms in Guangzhou Hans. METHODS: A total of 150 healthy Guangzhou Hans were studied with PCR-RFLP and ASA techniques. Current results were compared with the data on other ethnic groups. RESULTS: In the 150 individuals tested, the frequencies of the m1(Msp I-) and m2(Msp I+) alleles of the Msp I polymorphic site in the 3' non-coding region of the CYP1A1 gene were found to be 62.33% and 37.67%, respectively. The observed frequencies of the m1m1, m1m2 and m2m2 genotypes were found to be 40%, 44.67% and 15.33%, respectively, which met Hardy-Weinberg equilibrium. The frequencies of the A and G alleles of the exon 7 A4889G polymorphic site in the CYP1A1 gene were found to be 79% and 21%, respectively. The observed frequencies of the AA, AG and GG genotypes were found to be 62.67%, 32.67% and 4.66%, respectively, which met Hardy-Weinberg equilibrium. A close linkage between the Msp I polymorphism and exon 7 A4889G polymorphism was observed in Guangzhou Hans(chi(2)=62.2358, P<0.005). The frequencies of the C1(Rsa I+, Pst I-) and C2(Rsa I-, Pst I+) alleles of the Rsa I polymorphic site in the 5' flanking region of the CYP2E1 gene were found to be 85.3% and 14.7%, respectively. The observed frequencies of the C1C1, C1C2 and C2C2 genotypes were found to be 67.3%, 29.3%, and 3.4%, respectively, which met Hardy-Weinberg equilibrium. CONCLUSION: The frequencies of the CYP1A1 and CYP2E1 gene polymorphisms in Guangzhou Hans were similar to those in Japanese population, but were significantly different from those in European populations.