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Part 1. Genetics

1.2. Cytogenetics

Basic Techniques and Approaches

  1. P. Nagesh Rao1,
  2. Mark J. Pettenati2

Published Online: 15 APR 2005

DOI: 10.1002/047001153X.g102411

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics

How to Cite

Nagesh Rao, P. and Pettenati, M. J. 2005. FISH. Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics. 1:1.2:22.

Author Information

  1. 1

    David Geffen School of Medicine at UCLA, Los Angeles, CA, USA

  2. 2

    Wake Forest University School of Medicine, Winston-Salem, NC, USA

Publication History

  1. Published Online: 15 APR 2005


The limitations of classical chromosome studies have been overcome by the introduction of fluorescence in situ hybridization (FISH), which offers a molecular dimension to cytogenetic analyses. It is a very useful technique for detection of targeted chromosomal abnormalities and applicable to many specimen types such as blood, bone marrow, tissue touch preparations, body fluids, and even paraffin-embedded fixed tissue. Different FISH technologies have emerged, each with their own particular advantages and applications, for example, interphase FISH, whole-chromosome paints, multicolor-FISH, conventional comparative genome hybridization, and now array CGH. These techniques are all essentially based upon the annealing of single-stranded probe DNA to the complementary DNA sequences, present in their natural position on the chromosomes (in situ hybridization). Rapid development of new types of probes such as cosmids, P1, PAC, BAC, YAC, oligos, microdissected chromosome regions, and whole-chromosome libraries, dramatically increased the possible applications for FISH. Judicious choice from the molecular cytogenetic techniques now available has opened venues to novel applications, and consequently, even more information about cytogenetic abnormalities can now be obtained.


  • FISH;
  • centromeric probes;
  • whole-chromosome paint probe;
  • gene-specific probes;
  • array CGH