摘要
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 screen the mutation of BRAC1 gene and its effects on the oncogenesis of Wilms tumor. Methods: Using silver staining PCRSSCP method, the mutations of BRCA1 gene on exon 2, 5, 21 and part of exon 11 were screened in 24 cases of Wilms tumor. Normal adjacent tissues were taken as control. Results: Six mutations were in exon 5, 21, 11G and 11 H2 (1 in exon 5, 1 in 11G, and 3 in 11 H2). Conclusion: Mutation of BRCA1 gene may play a role in the oncogenesis of some cases with Wilms tumor.
出处
《中华小儿外科杂志》
CSCD
1998年第1期15-17,共3页
Chinese Journal of Pediatric Surgery
