Cytogenetic analysis by chromosome painting

Area of Science:

• Cytogenetics
• Molecular Biology
• Genetics

Background:

• Chromosome painting visualizes specific chromosomes using in situ hybridization.
• Fluorescence in situ hybridisation (FISH) is routinely used for identifying chromosomal rearrangements and breakpoints.

Purpose of the Study:

• To describe the methodology and applications of chromosome painting and reverse chromosome painting.
• To highlight the role of these techniques in clinical cytogenetics.

Main Methods:

• Direct visualization of chromosomes in metaphase spreads and interphase nuclei using FISH.
• Generation of labelled chromosome paints via polymerase chain reaction amplification of flow-sorted chromosomes.
• Development and application of reverse chromosome painting using aberrant chromosomes.

Main Results:

• Chromosome painting enhances identification of chromosomal rearrangements and origin of extra chromosomal material.
• Reverse chromosome painting identifies the chromosomal origin and breakpoints of aberrant chromosomes, including marker chromosomes.
• Combined conventional and reverse painting provide definitive analysis for complex rearrangements like interstitial translocations.

Conclusions:

• Chromosome painting technologies, including reverse painting, are essential tools in clinical cytogenetics.
• The availability of commercial kits has made multicolour chromosome painting a routine diagnostic method.