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人脑胶质瘤中10号染色体杂合性缺失、13q(视网膜母细胞瘤)、17p以及p53基因突变情况

Loss of heterozygosity on chromosome 10, 13q(Rb), 17p, and p53 gene mutations in human brain gliomas.

作者信息

Lee S H, Kim J H, Rhee C H, Kang Y S, Lee J H, Hong S I, Choi K S

机构信息

Department of Neurosurgery, Korea Cancer Center Hospital, Seoul.

出版信息

J Korean Med Sci. 1995 Dec;10(6):442-8. doi: 10.3346/jkms.1995.10.6.442.

Abstract

Using the methods of restriction fragment length polymorphism (RFLP) and single strand conformation polymorphism (SSCP) analyses, we have examined 33 cases of human gliomas with various malignant grades to detect the deletions of putative tumor suppressor gene loci, chromosome 10, 13q(retinoblastoma gene, Rb), 17p, and p53 mutation. We observed loss of heterozygosity (LOH) at loci on chromosome 10 (36%), 13q(Rb) (54%), and 17p(50%) in malignant gliomas. There, however was no allelic loss on chromosome 10 and 17p in low-grade gliomas. Rb gene deletions were seen in low-grade gliomas, including oligodendroglioma and ependymoma. This finding suggests that Rb inactivation may be an early genetic event in the development and progression of gliomas. We correlated the results of LOH on chromosome 17p and p53 mutation. Among the 8 cases which showed LOH on chromosome 17p, only three cases (38%) revealed p53 mutations. Low incidence of p53 mutations in cases with chromosome 17p deletions suggests that some other tumor suppressor genes may be located on chromosome 17p.

摘要

运用限制性片段长度多态性(RFLP)和单链构象多态性(SSCP)分析方法,我们检测了33例不同恶性程度的人类胶质瘤,以探寻假定的肿瘤抑制基因位点、10号染色体、13q(视网膜母细胞瘤基因,Rb)、17p的缺失情况以及p53突变。我们观察到恶性胶质瘤中10号染色体(36%)、13q(Rb)(54%)和17p(50%)位点存在杂合性缺失(LOH)。然而,低级别胶质瘤中10号染色体和17p未出现等位基因缺失。Rb基因缺失见于低级别胶质瘤,包括少突胶质细胞瘤和室管膜瘤。这一发现表明Rb失活可能是胶质瘤发生发展过程中的早期遗传事件。我们将17p染色体上的杂合性缺失结果与p53突变进行了关联分析。在17p染色体出现杂合性缺失的8例病例中,仅有3例(38%)显示p53突变。17p染色体缺失病例中p53突变发生率较低,提示17p上可能存在其他肿瘤抑制基因。

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