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© Kamla-Raj 2001 Int J Hum Genet, 1(1): 65-75 (2001)
Fluorescence in situ Hybridization General Principles and Clinical Application with Special Emphasis to Interphase Diagnostics
R. Raff and G. Schwanitz
Institut für Humangenetik der Universität Bonn, Germany, Wilhelmstraße 31, 53111 Bonn, Germany phone 00-49-(0)228 287 2338, Fax 00-49-(0)228 287 2545, email RRaff@gmx.de
key words Interphase FISH; mosaic analysis; centromere peculiarities; microdeletion; tumor karyotype.
Abstract Fluorescence in situ hybridization (FISH) is a molecular-cytogenetic investigation method and thus covers a gap between classical cytogenetic and molecular-genetic techniques. By the broad spectrum of application possibilities it leads to important new developments in basic and applied cytogenetics. It enables the labeling of whole chromosomes and defined chromosome regions and furthermore gene localization with single copy probes. FISH is a technique that allows DNA sequences to be detected on metaphase chromosomes, in interphase nuclei, in a tissue section, or in blastomeres and gametes. In basic scientific research special fields of application comprise characterization of somatic cell hybrids, analyses of meiosis and of karyotype evolution. In clinical and tumor cytogenetic it helps to identify chromosome rearrangements, marker chromosomes, chromosome mosaicism and specific tumor cell lines. Fluorescence in situ hybridization receives a special importance for interphase cytogenetics, which mainly covers the development in this field.
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