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目的筛查WT1基因在肾母细胞瘤中的改变情况。方法我们采用PCR－SSCP技术及多重PCR方法对24例肾母细胞瘤标本WT1基因第4，6－10外显子进行筛查。结果发现2例标本存在SSCP电泳迁移率的异常。应用双重PCR方法证实一例为WT1基因第8外显子的纯合性缺失。结论提示WT1基因多种形式的突变均可导致肾母细胞瘤的发生，但可能并不是导致散发型肾母细胞癌发生的主要因素。
Objective To screen the changes of WT1 gene in nephroblastoma. Methods We used PCR-SSCP and multiplex PCR to screen exon 4 and exon 6 of WT1 gene in 24 nephroblastoma specimens. The results showed that two cases of abnormal SSCP electrophoretic mobility shift. A double PCR method was used to confirm a case of homozygous deletion of exon 8 of WT1 gene. The results suggest that various forms of WT1 gene mutations can cause nephroblastoma, but may not be the main factor leading to sporadic nephroblastic carcinoma.