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目的:研究石蜡包埋肾肿瘤标本VHL基因突变情况。方法:采用PCR-SSCP银染法分析38 例肾透明细胞癌、10 例肾颗粒细胞癌、10 例肾盂移行细胞癌、10 例肾胚瘤VHL基因突变情况。结果:9 例肾透明细胞癌VHL基因外显子2 发生突变,突变率为23% ,其他3 种肾肿瘤均未发现VHL基因突变。结论:VHL基因突变与肾透明细胞癌的发生关系密切,PCR-SSCP方法检测VHL基因突变可用于VHL病及肾透明细胞癌的诊断
Objective: To study the mutation of VHL gene in paraffin-embedded kidney tumor. Methods: The mutations of VHL gene in 38 cases of renal clear cell carcinoma, 10 cases of renal cell carcinoma, 10 cases of renal pelvis transitional cell carcinoma and 10 cases of nephroblastoma were analyzed by PCR-SSCP silver staining. Results: Nine cases of renal clear cell carcinoma VHL gene exon 2 mutation, the mutation rate was 23%, the other three kinds of kidney tumors found no VHL gene mutation. Conclusion: The mutation of VHL gene is closely related to the occurrence of clear cell renal cell carcinoma. The detection of VHL gene mutation by PCR-SSCP can be used to diagnose VHL and clear cell renal cell carcinoma