肾细胞癌肿瘤抑制基因VHL的 变异多药耐药基因Mdr的表达

 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40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。

The Frequent Somatic Mutations of Von Hippel-Lindau Tumor Suppressor Gene(VHL) and the Expression of Multiple Drug Resistence(Mdr) Gene in Human Renal Carcinomas

To study the frequent somatic mutations of von Hippel-Lindau tumor suppressor gene(VHL)and the expression of multiple drug resistence(mdr)gene in human renal carcinomas.Methods:40 cases human renal carcinomas were analyzed for VHL gene using polymerase chain reaction (PCR) and single strand conformational polymorphism analysis.35 cases renal cell carcinomas were examied the product of mdr gene by immunohistochemical assay.Results Somatic mutations were detected in 63 percent(19/30) glycogen-rich renal carcinomas including 13 deletion,3 insertion,2 missense and 1 nonsense mutation.The degree of mdr gene expression correlated with histopathlogic subtypes of renal carcinomas.Conclusion Glycogen-rich renal carcinomas might be distingushed from other types by molecular genetic techniques.