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Selected Publication:
Saracoglu, K; Brown, J; Kearney, L; Uhrig, S; Azofeifa, J; Fauth, C; Speicher, MR; Eils, R.
New concepts to improve resolution and sensitivity of molecular cytogenetic diagnostics by multicolor fluorescence in situ hybridization.
Cytometry. 2001; 44(1):7-15
Doi: 10.1002/1097-0320(20010501)44:1<7::AID-CYTO1076>3.0.CO;2-G
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- Co-authors Med Uni Graz
- Speicher Michael
- Uhrig Sabine
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- Abstract:
- BACKGROUND: Routine application of multicolor fluorescence in situ hybridization (M-FISH) technology for molecular cytogenetic diagnostics has been hampered by several technical limitations. First, when using chromosome-specific painting probes, there is a limit in cytogenetic resolution of approximately 2-3 Mb, which can mask hidden structural abnormalities that have a significant clinical effect. Second, using whole chromosome painting probes, intrachromosomal rearrangements cannot be detected and the exact localization of breakpoints is often not possible. METHODS: We suggest the use of multiplex-labeled region or locus- specific probes in combination with an optimal probe design to improve the sensitivity and resolution of the M-FISH technology. To allow the application of this assay in routine diagnostics, we developed a multipurpose image analysis system. RESULTS: goldFISH was applied to the study of cryptic translocations in mental retardation patients and to the study of high-resolution breakpoint mapping in non-small cell lung cancer patients. For an individual with mental retardation, who had an apparently normal karyotype by G-banding, we detected an unbalanced translocation involving chromosomes 2 and 7. CONCLUSIONS: In combination with optimally designed probe kits, goldFISH overcomes most of the present limitations of the M-FISH technology and results in virtually 100% reliability for detecting interchromosomal and intrachromosomal rearrangements.
- Find related publications in this database (using NLM MeSH Indexing)
- Automation -
- Carcinoma, Non-Small-Cell Lung - diagnosis
- Humans - diagnosis
- In Situ Hybridization, Fluorescence - methods
- Lung Neoplasms - diagnosis
- Mental Retardation - diagnosis
- Metaphase - diagnosis
- Sensitivity and Specificity - diagnosis
- Translocation, Genetic - diagnosis
- Find related publications in this database (Keywords)
- multicolor-FISH
- image analysis
- classification
- optimal probe design