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目的 探讨人肾细胞癌中的VHL肿瘤抑制基因的变异和Mdr基因的表达水平 ,同肾癌发生发展的关系。方法 采用多聚酶链式反应 (PCR) ,DNA单链多态性分析和DNA测序的方法分析了 4 0例肾细胞癌标本 (其中包括 30例富糖原型 ,6例是嗜染型、3例多形性、1例颗粒型 )。用免疫组织化学法检测了正常肾组织和 35例肾细胞癌组织切片。结果 19 30 ( 63% )的富糖原型肾细胞癌的VHL肿瘤抑制基因发生了变异 ,其中包括 13例缺失、3例插入、2例错译和 1例无义。而在对照组未发现基因变异。而Mdr表达与组织学类型相关 ,且表达量与肿瘤分级有关。结论 富糖原型肾细胞癌可能在分子遗传学水平上与其它类型的肾细胞癌有所区别。
Objective To investigate the relationship between the mutation of VHL tumor suppressor gene and the expression of Mdr gene in human renal cell carcinoma and the occurrence and development of renal cell carcinoma. Methods Forty specimens of renal cell carcinoma (including 30 cases of glycogen rich form, 6 cases of nephropathy, 3 cases of polycystic kidney disease) were analyzed by polymerase chain reaction (PCR), DNA single strand polymorphism analysis and DNA sequencing. Shaped, 1 particle type). Immunohistochemistry was used to detect the normal kidney tissue and 35 cases of renal cell carcinoma tissue sections. Results Thirty-nine (63%) VHL tumor suppressor genes of glycogen-rich RCC were mutated, including 13 deletions, 3 insertions, 2 mistranslations and 1 nonsense. In the control group, no gene mutation was found. Mdr expression and histological type related, and the expression level and tumor grade related. Conclusions Glycogen-type renal cell carcinoma may differ from other types of renal cell carcinoma at the molecular genetic level.