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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 the abnormal expression of FHIT gene in normal nasopharyngeal epithelium and nasopharyngeal carcinoma and to explore the relationship between FHIT gene and nasopharyngeal carcinoma. Methods: 28 cases of nasopharyngeal carcinoma and 10 cases of normal nasopharyngeal epithelial tissue were examined by nested RT-PCR, and 2 cases of abnormalities were randomly selected for DNA sequencing analysis. Results: No abnormalities of FHIT transcripts were found in 10 cases of normal nasopharyngeal epithelium, and abnormal FHIT transcripts were found in 12 cases (42.9%) of NPC tissues. Two of the two cases were found by sequencing analysis, one of them lacked 11 bp of exon 8 and exon 10 5 ’, the other one had deletion of exon 4 ~ 7, a 53 bp fragment was inserted between exons 8 and 9 , And codon 94 has a synonymous point mutation. Conclusion: The abnormal FHIT gene plays an important role in the pathogenesis of nasopharyngeal carcinoma and may be one of the candidate tumor suppressor genes of nasopharyngeal carcinoma.