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

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.

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

Objective To investigates the role of tumorigenesis of PTEN 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 cases of medulloblastoma,10 cases of cerebellum astrocytoma and 5 cases of normal brain tissue.Results The mutation of exon 5 and exon 8 did not detect in cerebellum astrocytoma and normal brain tissue.Among medulloblastoma,the homozygous deletions of PTEN gene was 2.9%(1/34);the mutation of exon 5 was 7 cases;the mutation of exon 8 was 3 cases;The total mutated ratio of medulloblastoma was 32.4%.Conclusion The mutated ratio in medulloblastoma remarkably higher than in cerebellum astrocytoma,indicated PTEN gene mutation was association with oncogenesis of medulloblastoma.