Molecular Cytogenetics: Uses of flow sorted chromosomes, fluorescence in situ hybridisation (FISH) and digital microscopy for the analysis of genomes
The application of molecular techniques to the study of chromosome structure and rearrangements has revolutionised cytogenetics. Recombinant DNA technology and flow sorted chromosome libraries now provide us with specific probes which, coupled with in situ hybridisation techniques, allow the direct visualisation of the position of DNA sequences on metaphase chromosomes and in interphase nuclei. While these techniques allow direct gene mapping and ordering, their application to clinical samples now enables precise diagnosis of chromosomal abnormalities.
KeywordsChromosome Painting Metaphase Spread Aberrant Chromosome Chromosome Type Polymerase Chain Reaction Tube
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- Zheng YL, Carter NP, Price CM, Colman SM, Milton PJ, Hackett GA, Greaves MF, Ferguson-Smith MA (1993) Prenatal diagnosis from maternal blood: simultaneous immunophenotyping and FISH of fetal nucleated erythrocytes isolated by negative magnetic cell sorting. J Med Genet 30: 1051–6PubMedCrossRefGoogle Scholar