【摘要】 目的 :对河南贲门癌高发区林州市贲门癌组织代谢酶基因CYP1A1与CYP2E1的多态性进行检测 ,更深入了解该地区贲门癌变易感性分子机制。方法 :利用“病例 对照”设计 ,采用PCR RFLP和PCR SSCP方法对 19例贲门腺癌和 72例正常对照组织中代谢酶基因CYP1A1、CYP2E1的多态型进行检测。结果 :贲门腺癌与正常对照组织中 ,CYP2E1在 5’侧翼区域的RsaI基因多态 (c2 )分别占 2 6 %和 36 % ,c2基因变体能够降低个体对贲门癌的易感性(OR =0 .5 1) ;CYP2E1的DC和CC基因型合并在一起分别为 32 %和 4 8% ,C基因变体也能够降低个体对贲门癌的易感性 (OR =0 .5 0 ) ;CYP1A1的TC和CC合并在一起分别占 5 3%和 6 7% ,C等位基因并未影响个体对贲门癌的易感性 (OR =0 .80 ) ;2种组织中均未在CYP1A1基因第 7内含子内检测出Ile/Val基因多态。结论 :CYP1A1基因多态对贲门癌易感性无明显影响 ,而CYP2E1的基因多态改变与贲门癌易感性有关更多还原

【Abstract】 Aim: To further understand the molecular basis underlying genetic susceptibility of carcinogenesis of Gastric Cardia Adenocarcinoma (GCA) in Linzhou,Henan. Methods:Using case control design, the distribution of genetic polymorphisms of CYP1A1 and CYP2E1 were detected in 19 cases with GCA and 72 normal controls via PCR RFLP and PCR SSCP methods. Results: The frequencies of mutant type of CYP2E1 RsaI polymorphism (c2/c2) were 26% and 36% in cases and controls,respectively,which was correlated with declined risk of GCA ( OR =0.51); For CYP2E1 DraI polymorphism, the frequency of combination of DC and CC genotypes was 32% and 48% in cases and controls, respectively, the allele C was also negatively related with risk of GCA ( OR =0.50); For CYP1A1 polymorphism, the frequency of combination of TC and CC genotypes was 53% and 67% in cases and controls, respectively, no significant correlation was found between this polymorphism and GCA risk ( OR =0.80); the polymorphism of Ile/Val in intron 7 of CYP1A1 gene was not observed in both cases and controls. Conclusion: Genetic polymorphisms of CYP2E1 were negatively associated with genetic susceptibility of GCA, but the polymorphisms of CYP1A1 may have no evident impacts on risk of GCA.更多还原