Ried T, Liyanage M, du Manoir S, Heselmeyer K, Auer G, Macville M, Schröck E
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-4479, USA.
J Mol Med (Berl). 1997 Nov-Dec;75(11-12):801-14. doi: 10.1007/s001090050169.
Fluorescence in situ hybridization techniques allow the visualization and localization of DNA target sequences on the chromosomal and cellular level and have evolved as exceedingly valuable tools in basic chromosome research and cytogenetic diagnostics. Recent advances in molecular cytogenetic approaches, namely comparative genomic hybridization and spectral karyotyping, now allow tumor genomes to be surveyed for chromosomal aberrations in a single experiment and permit identification of tumor-specific chromosomal aberrations with unprecedented accuracy. Comparative genomic hybridization utilizes the hybridization of differentially labeled tumor and reference DNA to generate a map of DNA copy number changes in tumor genomes. Comparative genomic hybridization is an ideal tool for analyzing chromosomal imbalances in archived tumor material and for examining possible correlations between these findings and tumor phenotypes. Spectral karyotyping is based on the simultaneous hybridization of differentially labeled chromosome painting probes (24 in human), followed by spectral imaging that allows the unique display of all human (and other species) chromosomes in different colors. Spectral karyotyping greatly facilitates the characterization of numerical and structural chromosomal aberrations, therefore improving karyotype analysis considerably. We review these new molecular cytogenetic concepts, describe applications of comparative genomic hybridization and spectral karyotyping for the visualization of chromosomal aberrations as they relate to human malignancies and animal models thereof, and provide evidence that fluorescence in situ hybridization has developed as a robust and reliable technique which justifies its translation to cytogenetic diagnostics.
荧光原位杂交技术能够在染色体和细胞水平上实现DNA靶序列的可视化及定位，并且已经发展成为基础染色体研究和细胞遗传学诊断中极其有价值的工具。分子细胞遗传学方法的最新进展，即比较基因组杂交和光谱核型分析，现在能够在单一实验中对肿瘤基因组进行染色体畸变检测，并以前所未有的准确性识别肿瘤特异性染色体畸变。比较基因组杂交利用差异标记的肿瘤DNA和参照DNA进行杂交，以生成肿瘤基因组中DNA拷贝数变化图谱。比较基因组杂交是分析存档肿瘤材料中染色体失衡以及研究这些发现与肿瘤表型之间可能存在的相关性的理想工具。光谱核型分析基于差异标记的染色体涂染探针（人类有24种）的同时杂交，随后通过光谱成像，以不同颜色独特显示所有人类（及其他物种）染色体。光谱核型分析极大地促进了对染色体数目和结构畸变的特征描述，从而显著改进了核型分析。我们综述了这些新的分子细胞遗传学概念，描述了比较基因组杂交和光谱核型分析在与人类恶性肿瘤及其动物模型相关的染色体畸变可视化方面的应用，并提供证据表明荧光原位杂交已发展成为一种强大且可靠的技术，足以证明其可应用于细胞遗传学诊断。
