Relatively low proportion of dystrophin gene deletions in Israeli Duchenne and Becker muscular dystrophy patients

Am J Med Genet. 1994 Feb 15;49(4):369-73. doi: 10.1002/ajmg.1320490403.

Abstract

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic disorders caused by mutations in the X-linked dystrophin gene. The most common mutations in western populations are deletions that are spread non-randomly throughout the gene. Molecular analysis of the dystrophin gene structure by hybridization of the full length cDNA to Southern blots and by PCR in 62 unrelated Israeli male DMD/BMD patients showed deletions in 23 (37%). This proportion is significantly lower than that found in European and North American populations (55-65%). Seventy-eight percent of the deletions were confined to exons 44-52, half of these to exons 44-45, and the remaining 22% to exons 1 and 19. There was no correlation between the size of the deletion and the severity of the disease. All the deletions causing frameshift resulted in the DMD phenotypes.

MeSH terms

  • Blotting, Southern
  • Child
  • DNA Probes
  • DNA, Complementary
  • Dystrophin / genetics*
  • Female
  • Gene Deletion*
  • Humans
  • Israel
  • Male
  • Muscular Dystrophies / diagnosis
  • Muscular Dystrophies / genetics*
  • Polymerase Chain Reaction
  • Pregnancy
  • Prenatal Diagnosis

Substances

  • DNA Probes
  • DNA, Complementary
  • Dystrophin