Distribution of dystrophin gene deletions mapped by multiplex PCR in the Moravian population

Mol Cell Probes. 1997 Feb;11(1):85-7. doi: 10.1006/mcpr.1996.0083.

Abstract

Twenty two Duchenne muscular dystrophy (DMD) patients from the province of Moravia, Czech Republic, were tested for the presence of dystrophin gene rearrangements using multiplex polymerase chain reaction (PCR). Using primer pairs for amplification of two promoter regions and 27 exons, 11 patients were found positive for deletions spanning one or more exons. In all these cases, the deletions affected the distal part of the dystrophin gene, beginning from exon 44 but not reaching exon 60.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cytoskeletal Proteins / genetics*
  • Czech Republic
  • Exons
  • Gene Deletion*
  • Humans
  • Membrane Proteins / genetics*
  • Muscular Dystrophies / genetics*
  • Polymerase Chain Reaction
  • Utrophin

Substances

  • Cytoskeletal Proteins
  • Membrane Proteins
  • Utrophin