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目的 :检测肾细胞癌 ( RCC)组织 FHIT基因 ( fragile histidine triad)蛋白编码外显子异常情况 ,了解 RCC中 FHIT基因异常特征 ,探讨 FHIT基因与 RCC发生的关系。方法 :收集 RCC及相应癌周肾组织标本 2 2份和 1 6份 ,提取组织 DNA。DIG标记 FHIT全长 c DNA探针。PCR扩增 FHIT基因 E5～ E9,产物行 Southern blot杂交。结果 :1 5份 ( 68.2 % )癌组织标本、6份( 37.5% )癌周肾组织标本存在 FHIT基因蛋白编码外显子缺失或突变 ,其中 1 0份同时存在两个外显子异常改变。癌组织及癌周肾组织 E5异常 (含缺失、异常 )发生率分别为 40 .9% ( 9/ 2 2 )和2 5.0 % ( 4 / 1 6)。结论 :FHIT基因异常可能是 RCC发生过程中的早期事件。
OBJECTIVE: To detect the exon abnormalities of FHIT gene in renal cell carcinoma (RCC) tissues, to understand the abnormality of FHIT gene in RCC and to explore the relationship between FHIT gene and RCC. Methods: Twenty-two and 16 samples of RCC and corresponding peritumoral nephridial tissues were collected and tissue DNA was extracted. DIG-labeled FHIT full-length c DNA probe. PCR amplified FHIT gene E5 ~ E9, the product line Southern blot hybridization. Results: Fifteen (68.2%) of the cancerous tissue specimens and 6 (37.5%) of the peritumoral tissues were found to have deletion or mutation of exon encoding FHIT gene protein, of which 10 exonally altered exon 2. The incidences of E5 (including deletion and abnormality) in cancer tissues and pericancerous kidney tissues were 40.9% (9/2 2) and 2 5.0% (4/16) respectively. Conclusion: FHIT gene abnormalities may be early events in the process of RCC.