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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。
Objective To investigate the distribution of cytochrome P450 1A1 (CYP1A1) and cytochrome P45 0 2 E1 (CYP2 E1) in Han population in Guangzhou. Methods Polymorphisms of CYP1A1 and CYP2 E1 genes in 150 Han normal subjects in Guangzhou were detected by PCR-RFLP and allele-specific amplification and compared with other populations. Results The frequencies of msp (msp) and msp (msp) alleles in the 3 ’untranslated region of CYP1A1 gene were 62.33% and 37.67% respectively. The m1m1, m1m2 and m2 m2 genotypes The frequencies were 40%, 44.67% and 15.33% respectively. The frequencies of the A and G alleles of the A4889G polymorphism site in CYP1A1 gene were 79% and 21%, respectively. The frequencies of AA, AG and GG genotypes were 62.76% and 32.67%, respectively 4.6 6%. It was found that there was a linkage disequilibrium between Msp polymorphism and A4889G polymorphism in exon 7 of Han population in Guangzhou (χ2 = 62.2358, P <0.05). The frequencies of the alleles C1 (Rsa +, Pst -) and C2 (Rsa -, Pst +) of the Rsa and Pst polymorphisms in the 5 ’flanking region of CYP2 E1 gene were 85.3% and 14.7%, respectively. The frequencies of C1C1, C1C2, C2 C2 gene frequencies were 6 7.3%, 2 9.3% and 3.4%, respectively. Conclusion The distribution of CYP1A1 and CYP2 E1 polymorphisms in Han population in Guangzhou is similar to that of Japanese, which is significantly different from that in Europe and the United States.