摘要
目的 探讨新发现的印迹基因BWR1A突变与胚胎性肿瘤发生的关系。方法 采用聚合酶链式反应 单链构象多态性分析 (PCR SSCP)技术及DNA测序 ,对 55例肾母细胞瘤进行印迹基因BWR1A突变检测 ,以瘤旁组织为对照。结果 发现 6例肾母细胞瘤标本第 9外显子有异常泳动带。DNA测序其中 1例 1 0 93位G缺失 ,产生终止密码TGA。
Objective To investigate the mutation of the BWR1A gene,an imprinted gene, in nephroblastoma and explore the relationship between mutation of BWR1A and the pathogenesis of embryonic tumors.Methods Fifty five cases of nephroblastoma for mutation of the BWR1A gene were screened by PCR SSCP and DNA sequencing.Results Of the 55 cases, 6 showed abnormal SSCP band shifts. DNA sequencing showed 1 case of G deletion at 1093 locus, resulting in a stop codon TGA. Conclusion The mutation of BWR1A gene may be involved in oncogenesis of embryoma.
出处
《中华小儿外科杂志》
CSCD
北大核心
2003年第1期7-8,共2页
Chinese Journal of Pediatric Surgery
基金
辽宁省科委基金项目 (编号 :992 2 50 15)
