title: Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies.
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.
authors.affiliation: Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford, United Kingdom.
authors.forename: S M
authors.initials: SM
authors.lastname: Forrest
authors.forename: G S
authors.initials: GS
authors.lastname: Cross
authors.forename: T
authors.initials: T
authors.lastname: Flint
authors.forename: A
authors.initials: A
authors.lastname: Speer
authors.forename: K J
authors.initials: KJ
authors.lastname: Robson
authors.forename: K E
authors.initials: KE
authors.lastname: Davies
mesh_terms: D002872:Chromosome Deletion; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D004247:DNA / Q000138:chemical synthesis; D005091:Exons; D006801:Humans; D007120:Immunochemistry; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D009154:Mutation; D009693:Nucleic Acid Hybridization
chemical_list: D004247:DNA