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多形性胶质母细胞瘤中10号染色体长臂的缺失图谱分析

Deletion mapping of the long arm of chromosome 10 in glioblastoma multiforme.

作者信息

Fults D, Pedone C

机构信息

Department of Neurosurgery, University of Utah School of Medicine, Salt Lake City 84132.

出版信息

Genes Chromosomes Cancer. 1993 Jul;7(3):173-7. doi: 10.1002/gcc.2870070311.

DOI:10.1002/gcc.2870070311
PMID:7687872
Abstract

Cytogenetic and restriction fragment length polymorphism (RFLP) studies have shown that loss of one entire copy of chromosome 10 is a common genetic event in glioblastoma multiforme, the most malignant glial brain tumor in humans. In a search for submicroscopic deletions, we carried out an RFLP analysis using markers that had been mapped accurately on chromosome 10 by genetic linkage analysis. We studied 30 patients of whom 15 had loss of heterozygosity (LOH) at one or more loci. In seven cases, LOH was found at every informative locus, whereas in two cases extensive deletions were observed involving both the short and long arms. In six other patients, LOH was confined to a portion of the long arm. The smallest region of overlap among these latter six deletions was flanked by markers D10S12 proximally and D10S6 distally, a 33.4 centimorgan region that maps physically near the telomere (q25.1-qter). This region will serve as an important target for future mapping experiments designed to identify a tumor suppressor gene implicated in this lethal form of human cancer.

摘要

细胞遗传学和限制性片段长度多态性(RFLP)研究表明,10号染色体一个完整拷贝的缺失是多形性胶质母细胞瘤(人类最恶性的胶质脑肿瘤)中常见的遗传事件。为了寻找亚显微缺失,我们使用通过遗传连锁分析精确定位在10号染色体上的标记进行了RFLP分析。我们研究了30例患者,其中15例在一个或多个位点存在杂合性缺失(LOH)。在7例中,在每个信息位点均发现了LOH,而在2例中观察到涉及短臂和长臂的广泛缺失。在其他6例患者中,LOH局限于长臂的一部分。后6例缺失中最小的重叠区域近端由标记D10S12侧翼,远端由标记D10S6侧翼,这是一个33.4厘摩的区域,物理上定位于端粒附近(q25.1-qter)。该区域将作为未来定位实验的重要靶点,这些实验旨在鉴定与这种致命形式的人类癌症相关的肿瘤抑制基因。

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