Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies

Genomics. 1988 Feb;2(2):109-14. doi: 10.1016/0888-7543(88)90091-2.

Abstract

Fetal muscle cDNA clones covering at least 11.4 kb of the Duchenne muscular dystrophy (DMD) gene sequence were used to identify a deletion-prone region in DNA from DMD and Becker muscular dystrophy (BMD) patients. Of 36 BMD cases, 17 (47%) had deletions and all of the deletions began in the same intron of the gene. Of 107 DMD patients, 27 (25%) were deleted for this region, and 19 deletions originate in the same intron. Using a cDNA probe for an adjacent region of the gene, 32 new deletions were detected in DMD patients (total 44%). No new BMD deletions were detected. The DMD deletions were very heterogeneous. Thus two cDNA probes covering 2.4 kb could detect 53% of these deletions. Considering the whole locus, DMD and BMD are caused by a deletion of the gene sequence in at least 67% of cases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Deletion*
  • Chromosome Mapping
  • Cloning, Molecular
  • DNA / chemical synthesis
  • Exons
  • Humans
  • Immunochemistry
  • Male
  • Muscular Dystrophies / genetics*
  • Mutation
  • Nucleic Acid Hybridization

Substances

  • DNA