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目的探讨河南林州食管癌高发区食管鳞癌和贲门癌患者编码抑癌基因Ras相关区域家族1A(RASSF1A)第133位氨基酸的单核苷酸多态性。方法采用聚合酶链反应-限制性片断长度多态方法,检测112例食管鳞状细胞癌、116例贲门腺癌患者和235名对照组RASSF1A基因型分布。结果食管癌患者RASSF1A基因(Ser133Ala)多态位点的基因型分布与正常对照组差异无统计学意义,但在贲门癌患者中差异有统计学意义(P<0.05)。Ala/Ser+Ser/Ser基因型增加贲门癌的发生危险(OR值=2.06,95%CI=1.09~3.97,P=0.02)。结论RASSF1A第133位氨基酸的单核苷酸多态改变与贲门癌的发生有关,与食管鳞癌的发生无关。
Objective To investigate the single nucleotide polymorphisms of the amino acid at position 133 of RASSF1A gene in Ras-related region of familial esophageal squamous cell carcinoma and gastric cardia cancer in Linzhou, Henan Province. Methods The distribution of RASSF1A genotypes in 112 cases of esophageal squamous cell carcinoma, 116 cases of cardiac adenocarcinoma and 235 controls were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results The genotype distribution of RASSF1A gene (Ser133Ala) in esophageal cancer patients was not significantly different from that of normal controls (P> 0.05). The Ala / Ser + Ser / Ser genotype increased the risk of cardiac cancer (OR = 2.06, 95% CI = 1.09-3.97, P = 0.02). Conclusion The single nucleotide polymorphism (SNP) of amino acid 133 of RASSF1A is associated with the occurrence of cardiac cancer and has nothing to do with the occurrence of esophageal squamous cell carcinoma.