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在恶性星形细胞瘤中,17号染色体上存在一个不同于p53的潜在第二肿瘤抑制基因参与其中的证据。

Evidence for the involvement of a potential second tumor suppressor gene on chromosome 17 distinct from p53 in malignant astrocytomas.

作者信息

Saxena A, Clark W C, Robertson J T, Ikejiri B, Oldfield E H, Ali I U

机构信息

Surgical Neurology Branch, National Institute of Neurological Disorder and Stroke, NIH, Bethesda, Maryland 20892.

出版信息

Cancer Res. 1992 Dec 1;52(23):6716-21.

PMID:1358438
Abstract

Molecular analysis of malignant astrocytomas demonstrated three distinct groups of tumors with chromosome 17p abnormalities, which include (a) deletion of the p53 locus (17p13.1) and mutations in the remaining allele, (b) deletion of the p53 locus but no detectable mutations in the remaining allele, and (c) deletions not including the p53 locus but mutations in one of the alleles. Furthermore, deletion mapping analysis demonstrated allelic loss of genes distal to D17S28/D17S5 markers (17p13.3) in group C tumors. The loss of heterozygosity of genes on chromosome 17 without detectable mutation (group B) or deletion (group C) in the p53 gene implies the presence of a second tumor suppressor gene in the telomeric region of 17p, the homozygous functional inactivation of which may play a role, either alone or in conjunction with p53, in the initiation and/or progression of astrocytic neoplasms.

摘要

恶性星形细胞瘤的分子分析显示,有三组不同的肿瘤存在17号染色体短臂异常,其中包括:(a)p53基因座(17p13.1)缺失且剩余等位基因发生突变;(b)p53基因座缺失,但剩余等位基因未检测到突变;(c)缺失不包括p53基因座,但其中一个等位基因发生突变。此外,缺失定位分析显示,C组肿瘤中D17S28/D17S5标记(17p13.3)远端的基因发生等位基因缺失。在p53基因中未检测到突变(B组)或缺失(C组)的情况下,17号染色体上基因的杂合性缺失意味着在17p的端粒区域存在第二个肿瘤抑制基因,其纯合功能失活可能单独或与p53一起在星形细胞瘤的发生和/或进展中起作用。

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