Article Text

PDF

The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.
  1. A J van Essen,
  2. A L Kneppers,
  3. A H van der Hout,
  4. H Scheffer,
  5. I B Ginjaar,
  6. L P ten Kate,
  7. G J van Ommen,
  8. C H Buys,
  9. E Bakker
  1. Department of Medical Genetics, University of Groningen, The Netherlands.

    Abstract

    Detection of large rearrangements in the dystrophin gene in Duchenne and Becker muscular dystrophy is possible in about 65-70% of patients by Southern blotting or multiplex PCR. Subsequently, carrier detection is possible by assessing the intensity of relevant bands, but preferably by a non-quantitative test method. Detection of microlesions in Duchenne and Becker muscular dystrophy is currently under way. Single strand conformational analysis, heteroduplex analysis, and the protein truncation test are mostly used for this purpose. In this paper we review the available methods for detection of large and small mutations in patients and in carriers and propose a systematic approach for genetic analysis and genetic counselling of DMD and BMD families, including prenatal and preimplantation diagnosis.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.