Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
Azofeifa, J; Fauth, C; Kraus, J; Maierhofer, C; Langer, S; Bolzer, A; Reichman, J; Schuffenhauer, S; Speicher, MR.
An optimized probe set for the detection of small interchromosomal aberrations by use of 24-color FISH.
Am J Hum Genet. 2000; 66(5):1684-1688
Doi: 10.1086/302875
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- Führende Autor*innen der Med Uni Graz
- Speicher Michael
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- Abstract:
- The rapid spread of the use of new 24-color karyotyping techniques has preceded their standardization. This is best documented by the fact that the exact resolution limits have not yet been defined. Indeed, it is shown here that a substantial proportion of interchromosomal aberrations will be missed by all multicolor karyotyping systems currently in use. We demonstrate that both the sensitivity and the specificity of 24-color karyotyping critically depend on the fluorochrome composition of chromosomes involved in an interchromosomal rearrangement. As a solution, we introduce a conceptual change in probe labeling. Seven-fluorochrome sets that overcome many of the current limitations are described, and examples of their applications are shown. The criteria presented here for an optimized probe-set design and for the estimation of resolution limits should have important consequences for pre- and postnatal diagnostics and for research applications.
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