An Optimized Probe Set for the Detection of Small Interchromosomal Aberrations by Use of 24-Color FISH
| Autor: | Simone Schuffenhauer, Sabine Langer, Jay Reichman, Andreas Bolzer, Jorge Azofeifa, Christine Fauth, Michael R. Speicher, Christine Maierhofer, Jürgen Kraus |
|---|---|
| Jazyk: | angličtina |
| Předmět: |
Male
Indoles Color Biology Sensitivity and Specificity Translocation Genetic Prenatal diagnostics Genetics Humans Genetics(clinical) Sensitivity (control systems) Set (psychology) In Situ Hybridization Fluorescence Genetics (clinical) Fluorescent Dyes Chromosome Aberrations Cytogenetic(s) business.industry Pattern recognition Cytogenetic Aberrations Chromosome Banding Molecular hybridization Karyotyping Fish Female Artificial intelligence fluorochromeescence in situ hybridization (FISH) Postnatal diagnostics DNA Probes business Research Article |
| Zdroj: | The American Journal of Human Genetics. (5):1684-1688 |
| ISSN: | 0002-9297 |
| DOI: | 10.1086/302875 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|