COMPARATIVE GENOMIC HYBRIDIZATION ANALYSIS OF HUMAN SARCOMAS .1. OCCURRENCE OF GENOMIC IMBALANCES AND IDENTIFICATION OF A NOVEL MAJOR AMPLICON AT 1Q21-Q22 IN SOFT-TISSUE SARCOMAS

COMPARATIVE GENOMIC HYBRIDIZATION ANALYSIS OF HUMAN SARCOMAS .1. OCCURRENCE OF GENOMIC IMBALANCES AND IDENTIFICATION OF A NOVEL MAJOR AMPLICON AT 1Q21-Q22 IN SOFT-TISSUE SARCOMAS
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DOI:
10.1002/gcc.2870140103
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发表时间:
1995-09-01
影响因子:
3.7
通讯作者:
VANKESSEL, AG
VANKESSEL, AG
中科院分区:
医学2区
文献类型:
--
作者:
FORUS, A;WEGHUIS, DO;VANKESSEL, AG

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比较基因组杂交(CGH)是近年来发展起来的一种研究全基因组DNA序列拷贝数变异的工具。我们已经应用这项技术在54个软组织肉瘤中检测和绘制了扩增区域。通过杂交目视分析或对比度增强数字图像检测畸变,然后对畸变染色体进行定量数字比成像。一些肿瘤显示12q14的DNA序列拷贝数增加,正如预期的那样。然而,CGH分析在一些MDM2和CDK4均未扩增的肿瘤中也检测到12q14的扩增,这表明另一种未知的基因可能在肉瘤中驱动该区域的扩增。此外,在1q21-q22处检测到一个新的重复扩增子。与此片段重合的DNA扩增频率与12q14相同,表明1q21-22相关基因也可能在人软组织肉瘤的发生和/或进展中发挥重要作用。(C) 1995 Wiley-Liss, Inc。
Comparative genomic hybridization (CGH) was recently developed as a tool to survey entire genomes for variations in DNA sequence copy numbers. We have applied this technique to detect and map amplified regions in 54 soft tissue sarcomas. Aberrations were detected by visual analysis of hybridizations or contrast-enhanced digital images, followed by quantitative digital ratio imaging of the aberrant chromosomes. Several tumors showed increased DNA sequence copy number at 12q14, as expected. However, CGH analysis detected amplification of 12q14 also in some tumors where neither MDM2 nor CDK4 was amplified, suggesting that another as yet unknown gene(s) may drive amplification of this region in sarcomas. Furthermore, a novel recurring amplicon was detected at 1q21-q22. DNA amplifications coinciding with this segment were as frequent as those observed for 12q14, indicating that 1q21-22-linked gene(s) may also play an important role in the development and/or progression of human soft tissue sarcomas. (C) 1995 Wiley-Liss, Inc.