喉鳞癌组织中Rb基因突变的分析  

Analysis of Rb gene mutation in squamous cell carcinoma of larynx

作　　者：全成实[1] 郭晓峰[1] 

机构地区：[1]吉林大学第一医院耳鼻咽喉-头颈外科,吉林长春130021

出　　处：《吉林大学学报（医学版）》2002年第4期383-385,共3页Journal of Jilin University：Medicine Edition

基　　金：吉林省科委资金项目资助 (95 35 6 6 )

摘　　要：目的 :检测喉鳞状细胞癌组织中 Rb基因突变的具体位置和内容 ,分析其在喉癌发生发展中的意义 ,为基因诊断和基因治疗提供依据。方法 :应用 PCR- SSCP- DNA测序技术 ,选择 Rb基因第 2 0外显子的引物 ,对 5 0例喉鳞状细胞癌组织及 1 2例正常对照进行突变的检测。结果 :5 0例喉癌患者的喉癌组织中 Rb基因的突变率为 1 2 % ,突变以点突变为主 ,突变均引起氨基酸的改变。 Rb基因的突变与临床分期、病理分化程度及淋巴结转移间无相关性 ( P>0 .0 5 )。结论 :Rb基因突变导致的喉癌细胞不能产生有功能的 Rb蛋白可能是喉癌发生的原因之一 ,但 Rb基因的突变并不是喉鳞癌的常发事件。Objective:To determine the accurate position and composition of Rb gene mutations,analyze its significance in the pathogenesis of laryngeal neoplasma and provide evidence for gene diagnosis and gene therapy. Methods:Mutations in 20 th exon Rb gene was detected in 50 cases with laryngeal neoplasma and in 12 cases of normal control group by PCR SSCP DNA sequencing. Results:Rb mutation frequency was approximately 12%(6/50) observed in the laryngeal cancer and the point mutation was predominant. These mutations induced the changes of amino acids sequeces. There were no definite association of the mutation with tumor progressive stages, differentiation degree and lymph metastasis ( P >0.05). Conclusion: Non functional Rb protein produced by gene mutation was one cause in the development of laryngeal neoplasma, howerver, Rb gene mutation was not common in pathogenesis of human laryngeal neoplasma.

关 键 词：基因突变 RB基因 DNA测序 喉癌 

分 类 号：R739.65[医药卫生—肿瘤]