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室管膜瘤中p53基因突变的罕见性。

Infrequency of p53 gene mutations in ependymomas.

作者信息

Fink K L, Rushing E J, Schold S C, Nisen P D

机构信息

Department of Neurology, University of Texas Southwestern Medical Center, Dallas, USA.

出版信息

J Neurooncol. 1996 Feb;27(2):111-5. doi: 10.1007/BF00177473.

Abstract

Ependymomas, which comprise 5% of central nervous system tumors, have not been extensively characterized genetically. The p53 tumor suppressor gene is frequently mutated in human cancer, and is important in the pathogenesis of other central nervous system (CNS) tumors. Chromosomal DNA corresponding to the p53 tumor suppressor gene was amplified by the polymerase chain reaction (PCR) from 31 archival ependymoma specimens. DNA was screened for the presence of p53 mutations by single strand conformational polymorphism (SSCP) analysis; samples with altered mobility were further tested for the presence of mutation by direct DNA sequence analysis. Of the 31 ependymomas tested, one contained a detectable DNA sequence change in the p53 gene. Sequencing revealed a silent mutation in exon 6, at codon 213, which represents a known p53 sequence polymorphism. These finding suggest that in contrast to many other human cancers, p53 mutation is not important in the pathogenesis or progression of ependymomas.

摘要

室管膜瘤占中枢神经系统肿瘤的5%,其遗传学特征尚未得到广泛研究。p53肿瘤抑制基因在人类癌症中经常发生突变,在其他中枢神经系统(CNS)肿瘤的发病机制中起重要作用。通过聚合酶链反应(PCR)从31份存档的室管膜瘤标本中扩增出与p53肿瘤抑制基因对应的染色体DNA。通过单链构象多态性(SSCP)分析筛选DNA中p53突变的存在;迁移率改变的样本通过直接DNA序列分析进一步检测突变的存在。在检测的31例室管膜瘤中,有1例在p53基因中检测到可检测的DNA序列变化。测序显示外显子6第213密码子处有一个沉默突变,这是一个已知的p53序列多态性。这些发现表明,与许多其他人类癌症不同,p53突变在室管膜瘤的发病机制或进展中并不重要。

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