Comparative genomic hybridization analysis of human sarcomas: I. 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: I. Occurrence of genomic imbalances and identification of a novel major amplicon at 1q21–q22 in soft tissue sarcomas
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人类肉瘤的比较基因组杂交分析:I. 软组织肉瘤中基因组失衡的发生和 1q21-q22 处新型主要扩增子的鉴定

DOI:
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发表时间:
1995
期刊:
Genes, Chromosomes and Cancer
影响因子:
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通讯作者:
A. V. van Kessel
A. V. van Kessel
中科院分区:
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文献类型:
--
作者:
A. Forus;D. Weghuis;D. Smeets;Ø. Fodstad;O. Myklebost;A. V. van Kessel

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比较基因组杂交(CGH)是近年来发展起来的一种检测全基因组DNA序列拷贝数变异的方法。我们已经应用这种技术检测和地图扩增区域在54软组织肉瘤。通过杂交或对比度增强数字图像的视觉分析检测畸变,然后对畸变染色体进行定量数字比率成像。正如预期的那样,一些肿瘤显示12 q14处的DNA序列拷贝数增加。然而,CGH分析也在一些既没有MDM 2也没有CDK 4扩增的肿瘤中检测到12 q14的扩增,这表明另一个未知的基因可能驱动肉瘤中该区域的扩增。此外,在1 q21-q22处检测到一种新的重复扩增子。与此片段相一致的DNA扩增与12 q14中观察到的扩增一样频繁,表明1 q21-q22-连锁基因也可能在人类软组织肉瘤的发生和/或进展中发挥重要作用。
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‐q22‐linked gene(s) may also play an important role in the development and/or progression of human soft tissue sarcomas.
DOI: --
发表时间: 1992-07
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