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Molecular Diagnosis of Genetic Diseases pp 283–298Cite as

Pulsed Field Gel Electrophoresis for Detection of Gene Rearrangements in Duchenne Muscular Dystrophy

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Part of the book series: Methods in Molecular Medicine™ ((MIMM,volume 5))

Abstract

In diseases with a high new mutation rate, such as Duchenne and Becker muscular dystrophy (DMD, BMD), linkage analysis often produces highly unsatisfactory results for carrier diagnosis compared to methods that rely on the direct detection of the mutation. The size of the dystrophin gene and the nature of mutations at this locus that give rise to DMD/BMD make pulsed field gel electrophoresis (PFGE) an appropriate and powerful technique for detection of mutations and hence accurate carrier diagnosis in these diseases.

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Author information

Authors and Affiliations

  1. DNA Laboratory, Oxford Medical Genetics Laboratories, Churchill Hospital, Oxford, UK

    David J. Cockburn & Anneke Seller

Authors
  1. David J. Cockburn
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  2. Anneke Seller
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Editor information

Editors and Affiliations

  1. Regional Molecular Genetics Laboratory, St. Mary’s Hospital, Manchester, UK

    Rob Elles

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© 1996 Humana Press Inc, Totowa, NJ

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Cockburn, D.J., Seller, A. (1996). Pulsed Field Gel Electrophoresis for Detection of Gene Rearrangements in Duchenne Muscular Dystrophy. In: Elles, R. (eds) Molecular Diagnosis of Genetic Diseases. Methods in Molecular Medicine™, vol 5. Humana Press. https://doi.org/10.1385/0-89603-346-5:283

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  • DOI: https://doi.org/10.1385/0-89603-346-5:283

  • Publisher Name: Humana Press

  • Print ISBN: 978-0-89603-346-7

  • Online ISBN: 978-1-59259-589-1

  • eBook Packages: Springer Protocols

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