Visualization of the genome is possible within a short time frame during a cell division, the metaphase stage. Chromosomes can be arrested, fixed and used for the analysis.
Keywords: chromosome; preparation; diagnostics; genetic disease; cancer
Chromosomes: Methods for Preparation
Svetlana D Pack, National Institutes of Health, Bethesda, Maryland, USA
Constantine A Stratakis, National Institutes of Health, Bethesda, Maryland, USA
Published online: March 2002
DOI: 10.1038/npg.els.0002709
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Figure 1. Human metaphase chromosomes (a) after fluorescence in situ hybridization (FISH) using the chromosome X-specific centromeric probe labelled with spectrum orange and chromosome Y-specific heterochromatin labelled with spectrum green; and (b) with the inverted DAPI (4¢,6¢-diamino-2-phenylindole) banding (similar to G banding), allowing chromosomal identification.
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| References | |
| Caspersson T, Zech L and Johansson C (1970) Differential binding of alkylating fluorochromes in human chromosomes. Experimental Cell Research 60: 315–319. | |
| Cremer T, Lichter P, Borden J, Ward DC and Manuelidis L (1988) Detection of chromosome aberrations in metaphase and interphase tumor cells by in situ hybridization using chromosome specific library probes. Human Genetics 80: 235–246. | |
| Hirai M, Sato Y and Kanoh M (1994) A method for simultaneous detection of fluorescent G-bands and in situ hybridization signals. Cytogenetics and Cell Genetics 66: 149–151. | |
| Kallioniemi A, Kallioniemi O-P, Sudar D et al. (1992) Comparative genomic hybrization for molecular cytogenetic analysis of solid tumors. Science 258: 818–821. | |
| Schrock E, du Manoir S, Veldman T et al. (1996) Multicolor spectral karyotyping of human chromosomes. Science 273: 494–497. | |
| Yunis JJ (1976) High resolution of human chromosomes. Science 191: 1268–1270. | |
| Further Reading | |
| book Bickmore WA (ed.) (1999) Chromosome Analysis: A Practical Approach. Oxford: Oxford University Press. | |
| Pack SD and Zhuang Z (2000) Fluorescence in situ hybridization: application in cancer research and clinical diagnostics. Methods in Molecular Medicine 50: 35–50. | |
| book Rooney DE and Czepulkowski BH (1992) Human Cytogenetics, 2nd edn. New York: Oxford University Press. | |
| book Verma RS and Babu A (1995) Human Chromosomes. Principles and Techniques, 2nd edn. New York: McGraw-Hill. | |
