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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
OBJECTIVE: To detect the polymorphisms of CYP1A1 and CYP2E1 genes in gastric cardia carcinoma in Linzhou, a high prevalence area of cardia cancer in Henan province, and to further understand the molecular mechanism of cardia cancer susceptibility in the area. Methods: The polymorphisms of CYP1A1 and CYP2E1 in 19 gastric cardia adenocarcinomas and 72 normal controls were detected by PCR RFLP and PCR SSCP using the “case control” design. RESULTS: The CYP2E1 polymorphisms (c2) of RsaI gene in the 5 ’flanking region accounted for 26% and 36%, respectively. The c2 gene variant could reduce the individual susceptibility to cardia cancer (OR = 0 .5 1); CYP2E1 DC and CC genotypes combined were 32% and 48%, respectively, and C gene variants also reduced individual susceptibility to cardia cancer (OR = 0.55); CYP1A1 The combination of TC and CC accounted for 53% and 67%, respectively. The C allele did not affect the individual susceptibility to cardia cancer (OR = 0.80); neither of the two tissues was found in the 7th CYP1A1 gene Intron Ile / Val gene polymorphism was detected. Conclusion: CYP1A1 gene polymorphism has no significant effect on the susceptibility to gastric cardia cancer, while the genetic polymorphism of CYP2E1 is associated with the susceptibility to cardiac cancer