title: A very small frame-shifting deletion within exon 19 of the Duchenne muscular dystrophy gene.
abstract: We report the molecular characterization of a Japanese Duchenne muscular dystrophy (DMD) patient. The analysis of genomic gene by polymerase chain reaction indicates that the individuals have a limited deletion within an amplified region, which encompasses exon 19 of DMD gene. The amplified region was sequenced. Comparison of the deletion joint sequence with the normal amplified region sequence indicates that both 5' and 3' deletion end points are present within exon 19 and the deletion removes total 52 bp out of 88 bp of exon 19. Both his mother and sister are carriers of the deletion-containing allele. The mutation introduces a termination codon at residue 791 in exon 20, and is predicted to result in the production of a severely truncated protein. This sort of deletion (designated as DMD-Kobe) might be classified as a new type of DMD gene abnormality.
authors.affiliation: Department of Pediatrics, Kobe University School of Medicine, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Matsuo
authors.forename: T
authors.initials: T
authors.lastname: Masumura
authors.forename: T
authors.initials: T
authors.lastname: Nakajima
authors.forename: Y
authors.initials: Y
authors.lastname: Kitoh
authors.forename: T
authors.initials: T
authors.lastname: Takumi
authors.forename: H
authors.initials: H
authors.lastname: Nishio
authors.forename: J
authors.initials: J
authors.lastname: Koga
authors.forename: H
authors.initials: H
authors.lastname: Nakamura
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002872:Chromosome Deletion; D005091:Exons; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics*; D016133:Polymerase Chain Reaction