| 24例肾母细胞瘤WT1基因突变筛查 |
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| 引用本文： | 王菁,光炜,杜传书,刘唐彬,潘翠玲.24例肾母细胞瘤WT1基因突变筛查[J].肿瘤学杂志,1998(2). |
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| 作者姓名： | 王菁 光炜 杜传书 刘唐彬 潘翠玲 |
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| 作者单位： | 中山医科大学医学遗传研究室!广州，510089，中山医科大学医学遗传研究室!广州，510089，中山医科大学医学遗传研究室!广州，510089，中山医科大学附属第一医院!广州，510080，中山医科大学附属第一医院!广州，510080 |
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| 摘 要： | 目的筛查WT1基因在肾母细胞瘤中的改变情况。方法我们采用PCR－SSCP技术及多重PCR方法对24例肾母细胞瘤标本WT1基因第4，6－10外显子进行筛查。结果发现2例标本存在SSCP电泳迁移率的异常。应用双重PCR方法证实一例为WT1基因第8外显子的纯合性缺失。结论提示WT1基因多种形式的突变均可导致肾母细胞瘤的发生，但可能并不是导致散发型肾母细胞癌发生的主要因素。
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| 关 键 词： | 肾母细胞瘤 基因 WT1 突变 |
Screening the WT1 Gene Mutations in 24 Cases of Wilms' Tumors |
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| Wang Jing, Guang Wei, DU Chuanshu,et al..Screening the WT1 Gene Mutations in 24 Cases of Wilms' Tumors[J].Journal of Oncology,1998(2). |
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| Authors: | Wang Jing Guang Wei DU Chuanshu |
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| Institution: | Wang Jing, Guang Wei, DU Chuanshu, et al. |
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| Abstract: | Purpose To investigate the change of sene WT1 in Wilms'tumor. Method 24 case of Wilms' tumor were studied by using silverdrining PCR-SSCP method to scra the mutations, and multiple PCR to conform the deletion mutation of WT1 gene. Results Two cases were foundhaving a SSCP band shift in exon 6 and 10 respectively.A homozygous deletion in exon 8 was identified in 1 case by comparative multiple PCR analysis. Conclusions The mutation of WT1 gene may not play an important role in sporadic Wilms' tumor cases,but may be a reason for some carcinogenesis of Wilms' tumor. |
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| Keywords: | Wilms'tumor Gene WT1 Mutation |
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