SHB基因的突变与乳腺癌的关系

Ralationship between Mutation of SHB Gene and Breast Cancer

目的通过对乳腺癌组织和健康人外周血中SHB(Src homology2 domain containing adaptor protein B,SHB)基因的单核苷酸多态(single nucleotide polymorphism SNP)进行检测,研究SHB基因与乳腺癌的相关性。方法对SHB基因的启动子、外显子以及临近的内含子区域,使用PCR扩增和DNA测序方法,分别在96例乳腺癌患者的肿瘤组织及96例健康人的外周血进行测序,比较它们之间可能存在的差异,确定该基因是否与乳腺癌相关。结果本研究发现SHB基因共有7个SNP,其中5个是高频SNP,2个是低频SNP,该基因的启动子区一个SNP在健康人和乳腺癌患者之间差异有统计学意义(P<0.05)。结论 SHB基因的启动子的SNP可能与乳腺癌的发生有关。

Objective To study the association of Src homology 2 domain containing adaptor protein B（SHB）gene with pathogenesis of breast cancer,the single nucleotide polymorphism（SNP）of gene SHB in turnor tissue and henlthy peripheral blood were detected.Methods The tissues of 96 patients with breast cancer were included in a case-control associative study,and the circulating DNA of 96 healthy people were measured at the same time.Sequences of proximal promoter,coding regions（including sequence near splicing site） of SHB gene were detected by PCR amplification and DNA-sequencing.Results A total of 7SNPs were identified for SHB gene;there were 5 high frequency SNPs and 2 low frequency SNPs.One SNP（P/-1047） located in the promoter of SHB had significant difference of allele and genotype between breast cancer and controls（P〈0.05）.Conclusion The SNP in the promoter of SHB gene might be related to the occurrence of breast cancer.