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Updated: Jul 15, 2026
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Chromosomics: Detection of Numerical and Structural Alterations in All 24 Human Chromosomes Simultaneously Using a Novel OctoChrome FISH Assay
Published on: February 6, 2012
Multiplex-fluorescence in situ hybridization for chromosome karyotyping
Jochen B Geigl1, Sabine Uhrig, Michael R Speicher
1Institute of Medical Biology and Human Genetics, Medical University of Graz, Harrachgasse 21/8, A-8010 Graz, Austria.
Nature Protocols
|April 5, 2007
Summary
Multiplex-fluorescence in situ hybridization (M-FISH) enables rapid, distinct chromosome coloring for karyotyping. This essential tool aids clinical diagnostics and research, with protocols available for immediate use or probe generation.
Area of Science:
- Cytogenetics
- Molecular Biology
- Genetics
Background:
- Multiplex-fluorescence in situ hybridization (M-FISH) was developed for distinct human chromosome visualization.
- It facilitates karyotyping by assigning unique colors to each chromosome type.
Purpose of the Study:
- To provide a protocol for M-FISH based chromosome karyotyping.
- To highlight the versatility and applications of M-FISH technology.
Main Methods:
- Utilizes multichannel image analysis to determine spectral signatures of fluorochrome combinations.
- Applies M-FISH with both chromosome painting and region-specific probes.
Main Results:
- M-FISH allows rapid analysis of metaphase spreads, including complex chromosomal rearrangements.
- The technology has been successfully extended to other species like the mouse.
- Recent applications include 3D studies of chromosome distribution in interphase nuclei.
Conclusions:
- M-FISH is an indispensable tool for both clinical diagnostics and fundamental biological research.
- The protocol offers efficient karyotyping, with completion times of 3 days (ready probes) or 14 days (new probe generation).
Related Concept Videos
01:17Karyotyping
Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
01:17Karyotyping
Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
02:07FISH - Fluorescent In-situ Hybridization
Fluorescence in situ hybridization, or FISH, was developed in the early 1980s and has quickly become one of the most widely used techniques in cytogenetics. Labeled probes are used to bind complementary DNA or RNA sequences on a chromosome or in a region within a cell. Earlier, the probes could only be obtained by cloning or reverse transcription of a DNA template. Currently, the probe oligonucleotides can be synthesized synthetically. Additionally, with the advancement of optical techniques,...