鼻咽癌组织中FHIT基因异常表达的研究  

Mutation and abnormal expression of FHIT gene innasopharyngeal carcinoma

作　　者：邓燕飞[1] 田芳[2] 杨新明[1] 谢鼎华[1] 何执鼎[3] 卢永德[1] 邵细芸[2] 陈主初[2] 

机构地区：[1]湖南医科大学附属第二医院耳鼻咽喉科,湖南长沙410011 [2]湖南医科大学肿瘤研究所细胞生物学研究室,湖南长沙410078 [3]湖南省肿瘤医院,湖南长沙410006

出　　处：《癌症》2000年第10期855-857,共3页Chinese Journal of Cancer

基　　金：本课题受国家自然科学基金!( 39500172);卫生部课题基金!( 96- 1- 131)资助

摘　　要：目的 :检测正常鼻咽上皮和鼻咽癌组织中 FHIT基因的异常表达，探讨 FHIT基因与鼻咽癌发病的关系。方法 :采用巢式 RT PCR (nested RT PCR)技术对 28例鼻咽癌组织和 10例正常鼻咽上皮组织进行 FHIT基因检测，并随机选择 2例异常者进行 DNA测序分析。结果 :10例正常鼻咽上皮组织未发现 FHIT转录本异常， 12例 (42.9％ )鼻咽癌组织存在 FHIT异常转录本。 2例经测序分析发现其中 1例缺失外显子 8和外显子 10 5′端的 11bp；另 1例缺失外显子 4～ 7，在外显子 8和 9之间插入一 53 bp的小片段，且密码子 94存在同义点突变。结论 :提示 FHIT基因异常在鼻咽癌的发病中起重要作用，可能是鼻咽癌候选抑癌基因之一。Objective: To detect alterations of fragile histidine triad(FHIT) gene in nasopharyngeal carcinoma(NPC) and the correlation of FHIT gene with nasopharyngeal carcinogenesis. Methods: A total of 28 NPC and 10 normal nasopharyngeal epithelium(NPE) specimens were examined for abnormalities of FHIT gene by nested RT PCR, and 2 abnormal samples were randomly selected for DNA sequencing. Results: The deletion of FHIT gene was not observed in 10 NPE specimens. In 28 cases of NPC tissues, 12 (42.9％ ) were exhibited FHIT aberrant transcripts. Two of them were sequenced. Exon 8 and 11bp at the beginning of exon 10 were deleted in one case. In another case deletion was found between exon 4 and 7 with 53bp insertion between exons 8 and 9,and a synonymous mutation, codon 94 CAC(H)→ CAT(H),was found in exon 8. Conclusion: The present results suggest that the FHIT gene may play an important role in the pathogenesis of NPC and may be one of the candidate tumor suppressor genes in NPC.

关 键 词：鼻咽肿瘤 FHIT基因 基因缺失 基因异常表达 

分 类 号：R739.63[医药卫生—肿瘤]