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目的:调查肾母细胞瘤中p53基因突变,探讨p53基因突变与肾母细胞瘤发生的关系。方法:采用PCRSSCP分析结合DNA直接测序对肾母细胞瘤病人手术标本进行p53基因第2~11外显子的突变筛查。结果:25例肿瘤标本中未检出缺失,7例显示有SSCP电泳迁移率的改变,其中3例经序列分析证实为错义突变,1例合并一同义突变。结论:p53基因突变涉及肾母细胞瘤的发生
Objective: To investigate the mutation of p53 gene in nephroblastoma and explore the relationship between p53 gene mutation and nephroblastoma. Methods: Mutations of exons 2-11 of p53 gene in surgical samples of nephroblastoma were screened by PCRSSCP combined with DNA direct sequencing. Results: No deletion was detected in 25 cases of tumor samples. Seven cases showed changes of SSCP electrophoretic mobility. Three of them were confirmed as missense mutation by sequence analysis and one case of synonymous mutation. Conclusion: The mutation of p53 gene is involved in the development of nephroblastoma