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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 investigate the role of IDH1 gene mutation in the occurrence and development of glioblastoma. Methods: The exon 4 of IDH1 gene of glioblastoma was screened by extracting DNA from tumor cells, designing the synthesized primers, PCR amplification of the target fragment and direct DNA sequencing to find out the frequency, location and type of IDH1 gene mutation. Relationship between genotypes and clinical phenotypes. RESULTS: A total of 19 mutations were found in 57 glioblastoma samples, including 4 primary glioblastoma, 15 secondary glioblastoma and 0 glioblastoma in children Is codon # 4 exon 4 heterozygosity, missense, point mutation. CONCLUSION: IDH1 gene mutation may be an important molecular event in the development and progression of glioblastoma. The original and secondary glioblastoma, adult and child glioblastoma may originate from different molecular mechanisms.