肾母细胞瘤_RB基因_DNA测序(临床研究)

肾母细胞瘤中RB基因突变的研究

http://www.100md.com 《中华小儿外科杂志》 1998年第1期

肾母细胞瘤|RB基因|DNA测序,关键词：,摘要,MutationofRBGeneinWilmsTumor,Abstract,Keywords,材料与方法,表1

     光炜王菁杜传书刘唐彬潘翠玲 510089 广州, 中山医科大学医学遗传学教研室(光炜、王菁、杜传书))；中山医科大学附属第一医院小儿外科(刘唐彬、潘翠玲) 中华小儿外科杂志 1998 0 19 1

    关键词：肾母细胞瘤；RB基因；DNA测序期刊 zhxrwkzz 0 临床研究 fur -->

    摘要目的: 调查肾母细胞瘤中RB基因突变, 探讨RB基因突变与肾母细胞瘤发生的关系。方法: 采用多重PCR-SSCP法结合DNA测序对肾母细胞瘤的手术标本进行RB基因全部外显子的突变筛查。结果: 25例肾母细胞瘤中5例显示有缺失, 4例检出SSCP电泳迁移率的改变, 2例经测序证实为单碱基置换。其中1例(W28)为第756个密码子的第2个碱基发生A→C的颠换,另1例(W31)为第26内含子距5′端28个碱基处发生T→C的转换。结论: RB基因突变涉及肾母细胞瘤的发生, 提示肾母细胞瘤的发生为多次遗传改变积累的结果。



    Mutation of RB Gene in Wilms Tumor Guang Wei, Wang Jing, Du Chuanshu,et al. Dept. of Medical Genetics, Sun Yat-sen University of Medical Sciences, Guangzhou 510089

    Abstract Objective: To investigate the mutation of RB tumor suppressor gene in Wilms tumor and to explore the relationship between RB mutation and the pathogenesis of Wilms tumor. Methods: Twenty-five samples of Wilms tumor were screened for mutation from exon 1 to 27 of RB gene by multiplex PCR-SSCP and DNA sequencing. Results: Of the 25 cases, 5 displayed homozygous deletions, and 4 showed abnormal SSCP-band shifts.In the other 2 samples, one (W28) showed a basic change in the 2nd base of codon 756 (an A to C transversion). The other (W31) showed a basic change at t

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