Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels

Nature. 1987 Oct;329(6140):640-2. doi: 10.1038/329640a0.


Duchenne muscular dystrophy (DMD) is an X-linked disorder affecting about 1 in 3,500 males. It is allelic with the milder Becker muscular dystrophy. The biochemical basis for both diseases is unknown and no effective treatment is available. Long-range physical mapping has shown that the DMD gene, localized in Xp21, is extremely large, exceeding 2 million base pairs. Until now, carrier detection and prenatal diagnosis has involved the use of linked restriction fragment length polymorphism markers which detect muscular dystrophy-associated deletions in about 10% of the cases. Field inversion gel electrophoresis (FIGE) allows the detection of structural rearrangements in 21 out of 39 of the DMD patients studied (54%), of which 14 (65%) were not detected by conventional methods. Large deletions seem to make up a much higher fraction of the DMD mutations than so far indicated by other methods. A region prone to deletion was located in the distal half of the gene. FIGE analysis could provide a valuable extension of information for carrier detection and prenatal diagnosis. The technique should be generally applicable to the study of diseases involving structural chromosomal rearrangements.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Chromosome Aberrations / diagnosis
  • Chromosome Disorders
  • DNA / analysis
  • Electrophoresis / methods
  • Female
  • Humans
  • Male
  • Muscular Dystrophies / genetics*
  • Mutation*
  • Pedigree
  • Polymorphism, Restriction Fragment Length


  • DNA