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

R. Shomrat, E. Gluck, C. Legum, Y. Shiloh

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)369-373
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume49
Issue number4
DOIs
StatePublished - 1994
Externally publishedYes

Keywords

  • Duchenne muscular dystrophy
  • X-linked dystrophin gene
  • dystrophin deletions

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