Wang J, Liu Z, Lu X, Chen B
Department of Neurology, the First Affiliated Hospital, Sun Yat-sen University of Medical Sciences, Guangzhou, Guangdong, P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2000 Aug;17(4):259-61.
To determine the distribution of cytochrome P450 1A1(CYP1A1) and cytochrome P450 2E1(CYP2E1) gene polymorphisms in Guangzhou Hans.
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.
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.
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.
确定广州汉族人群细胞色素P450 1A1（CYP1A1）和细胞色素P450 2E1（CYP2E1）基因多态性的分布情况。
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）和等位基因特异性扩增（ASA）技术对150名健康广州汉族人进行研究。将当前结果与其他种族群体的数据进行比较。
在150名受试个体中，CYP1A1基因3'非编码区Msp I多态性位点的m1（Msp I-）和m2（Msp I+）等位基因频率分别为62.33%和37.67%。m1m1、m1m2和m2m^2基因型的观察频率分别为40%、44.67%和15.33%，符合Hardy-Weinberg平衡。CYP1A1基因第7外显子A4889G多态性位点的A和G等位基因频率分别为79%和21%。AA、AG和GG基因型的观察频率分别为62.67%、32.67%和4.66%，符合Hardy-Weinberg平衡。在广州汉族人群中观察到Msp I多态性与第7外显子A4889G多态性之间存在紧密连锁（χ^2=62.2358，P<0.005）。CYP2E1基因5'侧翼区Rsa I多态性位点的C1（Rsa I+，Pst I-）和C2（Rsa I-，Pst I+）等位基因频率分别为85.3%和14.7%。C1C1、C1C2和C2C2基因型的观察频率分别为67.3%、29.3%和3.4%，符合Hardy-Weinberg平衡。
广州汉族人群中CYP1A1和CYP2E1基因多态性频率与日本人群相似，但与欧洲人群有显著差异。
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