RASSF1A基因G435T多态性与乳腺癌易感性的相关性研究

Polymorphism of exon G435T in RASSF1A gene associated with the susceptibility of breast cancer

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 explore the relationship between the polymorphism of the third exon G435T in Ras association domain family 1A（RASSF1A） gene and the susceptibility of breast cancer.Methods：The polymorphism of G435T in RASSF1A gene was determined in 212 female patients with breast cancer,218 female patients with breast benign disease and 220 female healthy controls by using polymerase chain reaction-single strand conformation polymorphism（PCR-SSCP） method,and the correlation of RASSF1A polymorphism with the susceptibility of breast cancer was evaluated.Results：The frequencies of GT＋TT and T allele at G435T site in RASSF1A gene were significantly higher in patients with breast cancer than those with benign breast disease and healthy controls.Conclusion：The polymorphism of the third exon G435T in RASSF1A gene may be associated with the susceptibility of breast cancer.RASSF1A 435T allele can be a potential predictive factor for the risk of breast cancer.