PCR-LIS-SSCP检测大肠癌PTEN基因的点突变

Detection of Point Mutations of PTEN Gene by PCR-LIS-SSCP

目的 探讨PTEN基因突变在大肠癌发病机理中的作用。方法 应用聚合酶链反应 -低离子强度 -单链构象多态性技术 ,对大肠癌及正常大肠石蜡包埋组织中PTEN的第 7、第 8个外显子进行点突变检测。结果 在 60例大肠癌组织中 ,第 7个外显子SSCP带型异常的有 2 8例 ,阳性率为 46.7% (χ2 =5 .0 81,P <0 .0 5 ) ,第 8个外显子未见阳性带。在 10例正常大肠组织中 ,2个外显子均未见异常SSCP带型。结论 大肠癌组织中PTEN的第 7个外显子点突变的发生率高 。

Objective To explore the role of point mutations of PTEN gene in pathogenesis of colorectal cancer.Methods The exon 7 and 8 of PTEN gene were analyzed by polymorerase chain reaction low ionic strength single strand conformation polymorphism (PCR LIS SSCP) in samples from colorectal cancer and normal colorectal paraffin embedded tissue.Results In 28/60 samples from colorectal cancer,mobility shift of SSCP in exon 7 of PTEN gene was detected,the positive rate of mutation was 46.7% (χ 2=5.081, P <0.05),but no positive SSCP was found in exon 8,while no positive sscp was found in two neither exon 7 or exon 8 in 10 cases of normal colorectal tissue.Conclusion The mutation rate in exon 7 of PTEN gene is high,and which may play an important role in the carcinogenesis of colorectal cancer.