【摘要】 目的　探讨广州地区汉族人群细胞色素 P45 0 1A1(CYP1A1)和细胞色素 P45 0 2 E1(CYP2 E1)基因的多态性分布规律。方法　用 PCR- RFL P和等位基因特异性扩增技术 ,对 15 0名广州地区汉族正常人的 CYP1A1和 CYP2 E1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 Msp 多态位点 m1(Msp - )、m2 (Msp + )等位基因频率分别为 6 2 .33%和 37.6 7% ;m1m1、m1m2和 m2 m2基因型频率分别为 40 %、44 .6 7%和 15 .33%。CYP1A1基因 7号外显子 A4889G多态位点 A、G等位基因频率分别为 79%和 2 1% ;AA、AG和 GG基因型频率分别为 6 2 .6 7%、32 .6 7%和4.6 6 %。发现在广州地区汉族人群 Msp 多态与 7号外显子 A4889G多态存在连锁不平衡关系 (χ2 =6 2 .2 35 8,P<0 .0 0 5 )。CYP2 E1基因 5′侧翼区 Rsa 和 Pst 多态位点等位基因 C1(Rsa + ,Pst - )、C2(Rsa - ,Pst + )的频率分别为 85 .3% ,14.7% ;C1C1、C1C2、C2 C2基因频率分别为 6 7.3%、2 9.3%和3.4%。结论　广州地区汉族人群 CYP1A1和 CYP2 E1基因多态分布与日本人相近 ,与欧美人显著不同。更多还原

【Abstract】 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 exon7 A4889G polymorphism was observed in Guangzhou Hans(χ 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.更多还原