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目的探讨促凋亡基因Bax启动子区G(-248)A单核苷酸多态性(SNP)与乳腺癌患者临床病理特点的关系。方法采用聚合酶链反应-限制性酶切片段长度多态性分析(PCR-RFLP)方法检测113例乳腺癌患者Bax G(-248)A SNP的3个基因型(AA、AG和GG基因型),并与临床病理学指标相关联,比较各组间基因型频率的分布。结果 AG+AA型在肿瘤大小T>2 cm、临床分期Ⅱ~Ⅲ期、淋巴结转移阳性、C-erbB2蛋白阳性表达组中的比率均低于GG型,差异有统计学意义(P<0.05);在病理类型、组织学分级和雌激素受体(ER)、孕激素受体(PR)蛋白表达水平组进行分层分析,AG+AA型和GG型的分布比率差异均无统计学意义(P>0.05)。结论 AG+AA基因型可能与乳腺癌肿瘤较小、临床分期较早、淋巴结转移率较低和C-erbB2蛋白阴性表达相关。
Objective To investigate the relationship between G (-248) A single nucleotide polymorphism (SNP) of pro-apoptotic gene Bax promoter and the clinicopathological features of breast cancer patients. Methods The genotypes of AA, AG and GG of Bax G (-248) A SNP in 113 cases of breast cancer were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) ), And associated with clinical pathological indicators, comparing the distribution of genotype frequency among the groups. Results The positive rate of AG + AA was lower than that of GG in tumor size T> 2 cm, clinical stage Ⅱ ~ Ⅲ, lymph node metastasis, and C-erbB2 protein expression (P <0.05) There was no significant difference in the distribution rates of AG + AA and GG among the pathological types, histological grade and ER, PR protein expression levels P> 0.05). Conclusion AG + AA genotype may be associated with smaller breast cancer, earlier clinical stage, lower lymph node metastasis and negative expression of C-erbB2 protein.