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对1号染色体短臂的缺失定位发现,在人类脑膜瘤中,1号染色体短臂上存在一个常见的缺失区域,该区域位于D1S496远端。

Deletion mapping of the short arm of chromosome 1 identifies a common region of deletion distal to D1S496 in human meningiomas.

作者信息

Boström J, Mühlbauer A, Reifenberger G

机构信息

Department of Neuropathology, Heinrich-Heine University, Düsseldorf, Germany.

出版信息

Acta Neuropathol. 1997 Nov;94(5):479-85. doi: 10.1007/s004010050736.

Abstract

We have studied a series of 63 meningiomas, including 47 benign meningiomas (World Health Organization, WHO, grade I), 13 atypical meningiomas (WHO grade II) and 3 anaplastic meningiomas (WHO grade III), using microsatellite and restriction fragment length polymorphism analysis for loss of heterozygosity (LOH) at 21 polymorphic loci on chromosome 1 (19 loci on 1p and 2 loci on 1q). LOH on 1p was found in 9 of 13 atypical meningiomas (70%) and in 3 of 3 (100%) anaplastic meningiomas, but only in 6 of 47 (13%) benign meningiomas. In 13 tumors allelic loss was observed at all informative loci on 1p. Terminal deletions with retention of heterozygosity at one or more proximal 1p loci were found in 5 tumors. The region commonly deleted in all tumors was located distally to the D1S496 locus, i.e., at cytogenetic bands 1p34-1pter, and included the chromosomal segment which is frequently deleted in neuroblastoma, malignant melanoma, and different types of carcinoma.

摘要

我们研究了63例脑膜瘤,包括47例良性脑膜瘤(世界卫生组织,WHO,I级)、13例非典型脑膜瘤(WHO II级)和3例间变性脑膜瘤(WHO III级),采用微卫星和限制性片段长度多态性分析检测1号染色体上21个多态性位点(1p上19个位点和1q上2个位点)的杂合性缺失(LOH)。1p上的LOH在13例非典型脑膜瘤中的9例(70%)以及3例间变性脑膜瘤中的3例(100%)中被发现,但仅在47例良性脑膜瘤中的6例(13%)中出现。在13个肿瘤中,在1p上所有信息位点均观察到等位基因缺失。在5个肿瘤中发现了末端缺失,在一个或多个近端1p位点保留了杂合性。所有肿瘤中共同缺失的区域位于D1S496位点远端,即细胞遗传学带1p34 - 1pter,并且包括在神经母细胞瘤、恶性黑色素瘤和不同类型癌中经常缺失的染色体片段。

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