Rao Pulivarthi H, Nandula Subhadra V, Murty Vundavalli V
Baylor College of Medicine, Texas Children's Cancer Center, Houston, USA.
Methods Mol Biol. 2007;383:165-85. doi: 10.1007/978-1-59745-335-6_11.
Cancer cells exhibit nonrandom and complex chromosome abnormalities. The role of genomic changes in cancer is well established. However, the identification of complex and cryptic chromosomal changes is beyond the resolution of conventional banding methods. The fluorescence microscopy afforded by imaging technologies, developed recently, facilitates a precise identification of these chromosome alterations in cancer. The three most commonly utilized molecular cytogenetics methods comparative genomic hybridization, spectral karyotype, and fluorescence in situ hybridization, that have already become benchmark tools in cancer cytogenetics, are described in this chapter. Comparative genomic hybridization is a powerful tool for screening copy-number changes in tumor genomes without the need for preparation of metaphases from tumor cells. Multicolor spectral karyotype permits visualization of all chromosomes in one experiment permitting identification of precise chromosomal changes on metaphases derived from tumor cells. The uses of fluorescence in situ hybridization are diverse, including mapping of alteration in single copy genes, chromosomal regions, or entire chromosomes. The opportunities to detect genetic alterations in cancer cells continue to evolve with the use of these methodologies both in diagnosis and research.
癌细胞呈现出非随机且复杂的染色体异常。基因组变化在癌症中的作用已得到充分证实。然而，复杂且隐匿的染色体变化的识别超出了传统显带方法的分辨率。最近开发的成像技术所提供的荧光显微镜检查有助于精确识别癌症中的这些染色体改变。本章介绍了三种最常用的分子细胞遗传学方法——比较基因组杂交、光谱核型分析和荧光原位杂交，这些方法已成为癌症细胞遗传学的基准工具。比较基因组杂交是一种强大的工具，可用于筛选肿瘤基因组中的拷贝数变化，而无需从肿瘤细胞制备中期染色体。多色光谱核型分析允许在一个实验中可视化所有染色体，从而能够识别来自肿瘤细胞的中期染色体上的精确染色体变化。荧光原位杂交的用途多种多样，包括对单拷贝基因、染色体区域或整条染色体的改变进行定位。随着这些方法在诊断和研究中的应用，检测癌细胞中基因改变的机会也在不断发展。
