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人类神经母细胞瘤的比较基因组杂交分析:1p远端缺失的检测及神经母细胞瘤细胞系的进一步分子遗传学特征分析

Comparative genomic hybridization analysis of human neuroblastomas: detection of distal 1p deletions and further molecular genetic characterization of neuroblastoma cell lines.

作者信息

Van Roy N, Jauch A, Van Gele M, Laureys G, Versteeg R, De Paepe A, Cremer T, Speleman F

机构信息

Department of Medical Genetics, University Hospital, Ghent, Belgium.

出版信息

Cancer Genet Cytogenet. 1997 Sep;97(2):135-42. doi: 10.1016/s0165-4608(96)00362-7.

Abstract

Deletions of the short arm of chromosome 1 and MYCN amplification are the most frequently encountered genetic changes in disseminated neuroblastomas and neuroblastoma cell lines. Different strategies have been followed for detection of these and other genomic changes in neuroblastoma including karyotyping, FISH, and LOH, each with its own limitations. Here we report upon the evaluation of comparative genomic hybridization (CGH) in the analysis of neuroblastoma cell lines, with the emphasis on the assessment of the reliability of CGH for the detection of distal 1p deletions. We have analyzed seven neuroblastoma cell lines for which the 1p status was previously studied in detail using FISH and LOH. Our results show that CGH allows reliable detection of distal 1p deletions, including a small interstitial deletion in cell line SK-N-AS. Furthermore, CGH also allows the detection of chromosomal imbalance which would otherwise remain undetected, and provides useful information for further molecular characterization of chromosomal imbalances.

摘要

1号染色体短臂缺失和MYCN扩增是播散性神经母细胞瘤及神经母细胞瘤细胞系中最常见的基因改变。检测神经母细胞瘤中这些及其他基因组改变采用了不同策略,包括核型分析、荧光原位杂交(FISH)和杂合性缺失(LOH),每种方法都有其局限性。在此,我们报告比较基因组杂交(CGH)在神经母细胞瘤细胞系分析中的评估情况,重点是评估CGH检测1p远端缺失的可靠性。我们分析了7种神经母细胞瘤细胞系,此前已使用FISH和LOH对其1p状态进行了详细研究。我们的结果表明,CGH能够可靠地检测1p远端缺失,包括细胞系SK-N-AS中的一个小的间质性缺失。此外,CGH还能检测到否则会未被发现的染色体不平衡,并为染色体不平衡的进一步分子特征分析提供有用信息。

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