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目的：调查肾母细胞瘤中ＲＢ基因突变，探讨ＲＢ基因突变与肾母细胞瘤发生的关系。方法：采用多重ＰＣＲ－ＳＳＣＰ法结合ＤＮＡ测序对肾母细胞瘤的手术标本进行ＲＢ基因全部外显子的突变筛查。结果：２５例肾母细胞瘤中５例显示有缺失，４例检出ＳＳＣＰ电泳迁移率的改变，２例经测序证实为单碱基置换。其中１例（Ｗ２８）为第７５６个密码子的第２个碱基发生Ａ→Ｃ的颠换，另１例（Ｗ３１）为第２６内含子距５′端２８个碱基处发生Ｔ→Ｃ的转换。结论：ＲＢ基因突变涉及肾母细胞瘤的发生，提示肾母细胞瘤的发生为多次遗传改变积累的结果。
Objective: To investigate the mutation of RB gene in nephroblastoma and to explore the relationship between RB gene mutation and the occurrence of nephroblastoma. Methods: Multiplex PCR-SSCP combined with DNA sequencing of all specimens of nephroblastoma RB gene mutation screening. Results: In 25 cases of nephroblastoma, 5 cases showed deletion, 4 cases detected SSCP electrophoretic mobility shift, 2 cases confirmed by sequencing single base replacement. One case (W28) was A → C transversion of the second base of the 756th codon and the other case (W31) was T → 26th from the 26th intron of 28th base from the 5 ’end C conversion. Conclusion: The mutation of RB gene is involved in the development of nephroblastoma, suggesting that the occurrence of nephroblastoma is the result of multiple genetic changes.