人非小细胞肺癌中FHIT基因突变的研究

A study on the mutation of FHIT gene in human non small cell lung cancer

目的探讨FHIT基因突变在非小细胞肺癌发生发展中的作用。方法应用PCR-SSCP和DNA序列分析方法对29例人非小细胞肺癌中FHIT基因外显子5及其相邻内含子进行研究,以癌旁组织和7例肺良性病变组织做对照。结果29例肺癌患者中有7例出现FHIT基因变异,阳性率24.1%其中鳞癌28.6%(6/21)腺癌(1/6);而癌旁组织及肺良性病变组中均无变异,肺癌组、癌旁组及肺良性病变组比较差异具有统计学意义(p<0.05)。FHIT基因异常与非小细胞肺癌P-TNM分期、肿瘤组织学类型无明显关系。异常FHIT基因经DNA序列分析显示为内含子两个位点的碱基发生突变:188位插入G,227位T—C。外显子及其与内含子接头位点未发现变异。结论FHIT基因变异与非小细胞肺癌发生发展有关,基因异常发生在内含子,该变异可能是引起FHIT基因RNA异常剪接的主要原因之一。

objective To explore the role of the mutation of FHIT gene on the carcinogenesis and develop-ment of lung non small cell cancer.Methods The alterations of FHIT gene were detected in30cancer samples,their corresponding normal tissues and7lung tissues of benign pulmonary lesions as control by PCR-SSCP and DNA sequence.Results Among6of21lung squamous cell carcinoma ,one of6lung adenocarcinomas expressed aberrant FHIT gene.The ofners were normal2There was significant difference between the tumor group and the non-tumor group(p<0.05).There were no significant differences among the different histological types.Seqencing analysis of the altered sample showed that two base pairs were detected to be different from the sequence of GeneBank in two samples.(G inserted after position188,T to C in position227).Conclusions Aberration of FHIT gene in DNA was associated with Iung non small cell cancer,it may not be associated with the patient's histological types.Mutation in introns of FHIT gene may be one of the reasons altering RNA splicing.