An optimized probe set for the detection of small Interchromosomal aberrations by use of 24- color FISH

Autor: Azofeifa Navas, Jorge, Fauth, Christine, Kraus, Jürgen, Maierhofer, Christine, Langer, Sabine, Bolzer, Andreas, Reichman, Jay, Schuffenhauer, Simone, Speicher, Michael R.
Jazyk: angličtina
Rok vydání: 2000
Předmět:
Zdroj: American Journal Human Genetic, 2000, 66(5): 1684-1688
Kérwá
Universidad de Costa Rica
instacron:UCR
Popis: Reporte -- Universidad de Costa Rica, Instituto de Investigaciones en Salud. 2000 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. Universidad de Costa Rica. Instituto de Investigaciones en Salud UCR::Vicerrectoría de Investigación::Unidades de Investigación::Ciencias de la Salud::Instituto de Investigaciones en Salud (INISA)
Databáze: OpenAIRE