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Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics.

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  • 1. Department of Pathology, University of Cambridge.
      Authors
    • Carter NP 1
    (1 author)

Journal of Medical Genetics, 01 May 1992, 29(5):299-307
https://doi.org/10.1136/jmg.29.5.299 PMID: 1583656 PMCID: PMC1015948

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Abstract 

We describe a method, termed reverse chromosome painting, which allows the rapid analysis of the content and breakpoints of aberrant chromosomes. The method involves the sorting of small numbers of the aberrant chromosome from short term blood culture preparations or cell lines by using bivariate flow karyotype analysis. The sorted chromosomes are amplified and biotin labelled enzymatically using a degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR), the product annealed to metaphase spreads from normal subjects, and hybridisation detected using fluorescence in situ hybridisation (FISH). We show the usefulness of this method for routine clinical cytogenetics by the analysis of cases involving an insertion, a deletion, a translocation, and two cases of a chromosome with additional material of unknown origin. The method has particular application for the rapid resolution of the origin of de novo unbalanced chromosome duplications.

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J Med Genet. 1992 May; 29(5): 299–307.
PMCID: PMC1015948
PMID: 1583656

Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics.

N P Carter, M A Ferguson-Smith, M T Perryman, H Telenius, A H Pelmear, M A Leversha, M T Glancy, S L Wood, K Cook, H M Dyson
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Abstract

We describe a method, termed reverse chromosome painting, which allows the rapid analysis of the content and breakpoints of aberrant chromosomes. The method involves the sorting of small numbers of the aberrant chromosome from short term blood culture preparations or cell lines by using bivariate flow karyotype analysis. The sorted chromosomes are amplified and biotin labelled enzymatically using a degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR), the product annealed to metaphase spreads from normal subjects, and hybridisation detected using fluorescence in situ hybridisation (FISH). We show the usefulness of this method for routine clinical cytogenetics by the analysis of cases involving an insertion, a deletion, a translocation, and two cases of a chromosome with additional material of unknown origin. The method has particular application for the rapid resolution of the origin of de novo unbalanced chromosome duplications.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
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