An optimized probe set for the detection of small Interchromosomal aberrations by use of 24- color FISH
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Date
2000Author
Azofeifa Navas, Jorge
Fauth, Christine
Kraus, Jürgen
Maierhofer, Christine
Langer, Sabine
Bolzer, Andreas
Reichman, Jay
Schuffenhauer, Simone
Speicher, Michael R.
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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 preand
postnatal diagnostics and for research applications.
External link to the item
doi:10.1086/302875
http://www.cell.com/ajhg/abstract/S0002-9297%2807%2962998-X
http://www.sciencedirect.com/science/article/pii/S000292970762998X
http://www.sciencedirect.com/science/article/pii/S000292970762998X
Reporte -- Universidad de Costa Rica, Instituto de Investigaciones en Salud. 2000