髓母细胞瘤分子病理学研究:PTEN抑癌基因单链构型多态性分析  

The study of molecular pathogenesis in medulloblastoma:Single-strand conformation polymorphism analysis of PTEN tumor suppressor gene

作　　者：王亚明[1] 田增民[1] 罗世祺[2] 田宇[3] 

机构地区：[1]中国人民解放军海军总医院全军神经外科中心,北京100037 [2]北京天坛医院神经外科,北京100710 [3]吉林大学中日联谊医院神经外科,吉林长春130033

出　　处：《中国实验诊断学》2006年第10期1128-1131,共4页Chinese Journal of Laboratory Diagnosis

基　　金：国家自然科学基金资助(30271334)

摘　　要：目的探讨PTEN抑癌基因突变在髓母细胞瘤发病中的作用。方法用PCR-DNA单链构型多态性分析(PCR-SSCP)方法,对34例髓母细胞瘤、10例小脑星形细胞瘤和5例正常脑组织进行PTEN基因第5、8重要功能外显子突变检测。结果10例小脑星形细胞瘤中exon5和exon8均无点突变的发生;髓母细胞瘤PTEN基因纯合性缺失率为2.9%;exon5-1突变者3例;exon5-2突变者4例;exon-8突变者3例;PTEN基因总变异率为32.4%。结论髓母细胞瘤中PTEN基因高变异率可能与髓母细胞瘤的发生相关。Objective To investigates the role of tumorigenesis of PFEN gene mutation in medulloblastoma,Methods We use polymerase chain reaction-Single strand conformation polymorphism analysis（PCR-SSCP） methods to determine the mutations of exon 5 and exon 8 of the PTEN gene in 34 eases of medulloblastoma, 10 eases of cerebellum astroeytoma and 5 eases of normal brain tissue, Results The mutation of exon 5 and exon 8 did not detect in cerebellum astrecytoma and normal brain tissue, Among medulloblastoma,the homozygous deletions of PTEN gene was 2.9%（1/34）; the mutation of exon 5 was 7 eases; the mutation of exon 8 3 cases; The total mutated ratio of medulloblastoma was 32.4%. Conclusion The mutated ratio in medulloblastoma remarkably higher than in cerebellum astroeytoma, indicated PTEN gene mutation was association with onoogenesis of medulloblastoma.

关 键 词：髓母细胞瘤 PTEN基因 基因突变 

分 类 号：R739.4[医药卫生—肿瘤]