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胶质母细胞瘤与IDH1基因突变的关系 被引量:3

Role of IDH1 Gene Mutation in the Genesis of Glioblastoma
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摘要 目的:探讨IDH1基因突变在胶质母细胞瘤发生、发展中所起的作用。方法:通过提取肿瘤细胞DNA、设计合成引物、目的片段PCR扩增、DNA直接测序对胶质母细胞瘤患者IDH1基因4号外显子进行筛查,了解IDH1基因突变频率、位置、类型等,分析基因型与临床表型的关系。结果:在57例胶质母细胞瘤标本中总共发现了19例突变,其中原发胶质母细胞瘤4例,继发胶质母细胞瘤15例,儿童胶质母细胞瘤0例,全部为4号外显子132号密码子杂合性、错义、点突变。结论:IDH1基因突变可能是胶质母细胞瘤发生、发展过程中的重要分子事件,原、继发胶质母细胞瘤,成人、儿童胶质母细胞瘤可能起源于不同的分子机制。 Objective: To explore the possible role of IDH1 gene mutation in the genesis and development of human glioblastoma.Methods: Exon 4 of IDH1 gene was screened through polymerase chain reaction and direct DNA sequencing.Results: IDH1 gene mutations were found in 19 out of 57 specimens,and mutation occurs only in primary glioblastoma and second glioblastoma,as 4 and 15 respectively in each.No pediatric glioblastomas was found.All mutations were heterozygous and point mutation,and can only be found in exon 4 codon 132.Conclusion: Heterozygous point mutation of IDH1 gene may play an important role in the genesis of glioblastoma.Primary and secondary glioblastoma may originate differently.Different mechanisms possibly contribute to adult or child glioblastomas.
出处 《武汉大学学报(医学版)》 CAS 北大核心 2011年第2期164-166,I0001,共4页 Medical Journal of Wuhan University
关键词 IDH1 基因突变 PCR DNA直接测序 胶质母细胞瘤 IDH1 Gene Mutation PCR Direct DNA Sequencing Glioblastoma
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参考文献10

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共引文献11

同被引文献57

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