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非星形细胞性人脑肿瘤中的p53突变

p53 mutations in nonastrocytic human brain tumors.

作者信息

Ohgaki H, Eibl R H, Wiestler O D, Yasargil M G, Newcomb E W, Kleihues P

机构信息

Division of Neuropathology, University of Zurich, Switzerland.

出版信息

Cancer Res. 1991 Nov 15;51(22):6202-5.

PMID:1933879
Abstract

Genomic DNA from 51 primary human brain tumors was screened for the presence of mutations in the tumor suppressor gene, p53, using the polymerase chain reaction and single strand conformation polymorphism analysis, followed by direct DNA sequencing. Mutations leading to an amino acid change were found in 2 of 17 (12%) oligodendrogliomas and 2 of 19 (11%) medulloblastomas but none of 15 ependymomas. Sites of mutations were in exon 5 (codon 141), exon 6 (codon 193 and 213), and exon 7 (codon 246). In addition, there were silent mutations in exon 6 (codon 213) in one oligodendroglioma and in one ependymoma. This study points to the possible role of the p53 tumor suppressor gene in some central nervous system neoplasms of divergent histogenesis.

摘要

采用聚合酶链反应和单链构象多态性分析,随后进行直接DNA测序,对51例原发性人脑肿瘤的基因组DNA进行筛查,以检测肿瘤抑制基因p53中是否存在突变。在17例少突胶质细胞瘤中有2例(12%)、19例髓母细胞瘤中有2例(11%)发现导致氨基酸改变的突变,但15例室管膜瘤中均未发现。突变位点在外显子5(密码子141)、外显子6(密码子193和213)和外显子7(密码子246)。此外,在1例少突胶质细胞瘤和1例室管膜瘤的外显子6(密码子213)中存在沉默突变。这项研究指出了p53肿瘤抑制基因在一些组织发生不同的中枢神经系统肿瘤中的可能作用。

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