目的：探讨ＢＲＣＡ１基因突变与肾母细胞瘤发生的关系。方法：采用ＰＣＲ－ＳＳＣＰ技术对２４例肾母细胞瘤标本选用ＢＲＣＡ１基因发生突变较多的第２、５、２１和部分１１外显子区域进行筛查，以瘤旁正常组织作对照。结果：发现有６例标本分别在第５、２１、１１Ｇ、１１Ｈ２外显子区域出现ＳＳＣＰ异常泳动带。结论：提示ＢＲＣＡ１基因的突变可能与部分肾母细胞瘤的发生有一定关系。 Objective: To investigate the relationship between BRCA1 mutation and nephroblastoma. Methods: PCR-SSCP technique was used to screen the second, fifth, twelfth and exon 11 exon regions of 24 specimens of Wilms’ tumor with mutations in BRCA1 gene. The normal tissues were used as control. RESULTS: Six cases of SSCP abnormal bands were found in exon 5, 21, 11G and 11H2, respectively. Conclusion: It suggests that the mutation of BRCA1 may be related to the occurrence of some nephroblastoma.