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Fluorescence In Situ Hybridization in Cardiovascular Disease

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Many human diseases are associated with cytogenetic abnormalities or chromosomal disorders including translocations, deletions, duplications, inversions, and other complicated chromosomal changes. Fluorescence in situ hybridization (FISH), a technique involving hybridization of labeled probes to chromosomes and detection of hybridization via fluorochromes, has become a popular method for identification and characterization of cytogenetic abnormalities. For FISH analysis, metaphase chromosomes are prepared by mitotic arrest and hypotonic shock, and denatured. Hybridization of digoxigenin- or biotin-labeled probes to these chromosomes is visualized using fluorochromes like fluorescein isothiocyanate and Texas Red. We have successfully applied FISH technology to the characterization of chromosome breakpoints involved in disease-associated cytogenetic abnormalities to identify candidate gene(s) for the disease. FISH is also widely used in clinical diagnosis of chromosomal disorders.
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