title: Relatively low proportion of dystrophin gene deletions in Israeli Duchenne and Becker muscular dystrophy patients.
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.
authors.affiliation: Genetic Institute, Elias-Sourasky Tel Aviv Medical Center, Israel.
authors.forename: R
authors.initials: R
authors.lastname: Shomrat
authors.forename: E
authors.initials: E
authors.lastname: Gluck
authors.forename: C
authors.initials: C
authors.lastname: Legum
authors.forename: Y
authors.initials: Y
authors.lastname: Shiloh
mesh_terms: D015139:Blotting, Southern; D002648:Child; D015342:DNA Probes; D018076:DNA, Complementary; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007557:Israel; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D015342:DNA Probes; D018076:DNA, Complementary; D016189:Dystrophin