前列腺癌患者抑癌基因PTEN上游序列的突变分析

Relevance of the Polymorphism in Upstream Sequence of PTEN Gene with Prostate Cancer

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(χ2=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-510bp of PTEN gene was found,and the AA genetype was more in prostate cancer then in healthy controls.Conclusion The A/G mutation upstream-510bp of PTEN gene may reduce the expression of PTEN and promote the development of the prostate cancer.