前列腺癌患者抑癌基因PTEN上游序列的突变分析

摘要

目的 查找前列腺癌患者抑癌基因(phosphataseand tensin homologue deleted chromatosome,PTEN)上游序列是否存在改变,以及该改变与前列腺癌发生发展是否存在关联.方法 提取50例前列腺癌(prostate cancer,PCa)及30例正常对照组的外周血DNA,扩增PTEN外显子1上游1200bp左右DNA片段,纯化目的产物后进行测序,观察PCa患者与对照组的差异.结果PCa患者在PTEN基因外显子1上游-510bp处存在G/A变异,形成3种基因型GG、GA、AA.前列腺癌与对照组相比,3种基因型频率存在差异(x2=7.78,P＜0.05).结论 作为抑癌基因的上游序列,基因的突变有可能导致了PTEN基因转录能力的下降,进而降低了抑癌基因对前列腺癌变进展的抑制作用.%Objective To elucidate the relevance of the polymorphism in upstream sequence of PTEN gene with prostate cancer. Methods We amplificated the DNA fragments upstream 1200bp of the PTEN exon 1 , and analysed the sequence between the Pca patients and the controls. Results An A/G mutation upstream -SlObp of PTEN gene was found,and the AA genetype was more in prostate cancer then in healthy controls. Conclusion The A/G mutation upstream -SlObp of PTEN gene may reduce the expression of PTEN and promote the development of the prostate cancer.