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目的:探讨肿瘤抑制基因Ras相关区域家族1A基因(Ras association domain family 1A gene, RASSF1A)第3外显子G435T多态性与乳腺癌发病的相关性。方法:采用聚合酶链反应-单链构象多态性分析(PCR-single strand conformation polymorphism analysis, PCR-SSCP)法检测212例乳腺癌患者、218例乳腺良性病变患者,及220例健康对照人群RASSF1A 基因 G435T的多态性,并分析RASSF1A基因多态性与乳腺癌易感性的相关性。结果:RASSF1A基因 G435T位点的TG+TT基因型及T等位基因的频率乳腺癌组明显高于乳腺良性病变组和健康对照人群组2个对照组。而乳腺良性病变组与健康对照人群组之间,则差异无统计学意义;结论:RASSF1A基因第3外显子G435T位点G/T多态性可能为乳腺癌发病的易感基因位点,T等位基因可能乳腺癌发病的易感基因位点。
Objective: To investigate the relationship between G435T polymorphism of exon 3 of Ras associated domain family 1A gene (RASSF1A) and the pathogenesis of breast cancer. Methods: 212 cases of breast cancer, 218 cases of benign breast lesions and 220 healthy controls were detected by PCR-single strand conformation polymorphism analysis (PCR-SSCP) method. RASSF1A Gene G435T polymorphism and analysis of RASSF1A gene polymorphism and breast cancer susceptibility. Results: The frequency of TG + TT genotype and T allele of G435T locus in RASSF1A gene was significantly higher in breast cancer group than in benign breast disease group and healthy control group. However, there was no significant difference between benign lesion group and healthy control group. Conclusion: The G / T polymorphism of G435T site of exon 3 of RASSF1A gene may be the susceptible gene locus for breast cancer The T allele may be a susceptible locus for breast cancer.