title: Sequences of junction fragments in the deletion-prone region of the dystrophin gene.
abstract: The Duchenne muscular dystrophy locus is remarkable in that it shows a high mutation rate and the majority of mutations found are deletions. These deletions are generated as meiotic as well as mitotic events and occur preferentially in the central region of the gene. Nothing is known so far about the mechanisms involved. This paper reports the first sequencing of deletion junctions in the dystrophin gene. The data from a study of two patients with deletions in the central region of dystrophin show the breakpoints to lie in regions of introns in which stretches of dA-dT are seen. The relationship between these observations and possible mechanisms for the mutations is discussed.
authors.affiliation: Molecular Genetics Group, John Radcliffe Hospital, Headington, England.
authors.forename: D R
authors.initials: DR
authors.lastname: Love
authors.forename: S B
authors.initials: SB
authors.lastname: England
authors.forename: A
authors.initials: A
authors.lastname: Speer
authors.forename: R F
authors.initials: RF
authors.lastname: Marsden
authors.forename: J F
authors.initials: JF
authors.lastname: Bloomfield
authors.forename: A L
authors.initials: AL
authors.lastname: Roche
authors.forename: G S
authors.initials: GS
authors.lastname: Cross
authors.forename: R C
authors.initials: RC
authors.lastname: Mountford
authors.forename: T J
authors.initials: TJ
authors.lastname: Smith
authors.forename: K E
authors.initials: KE
authors.lastname: Davies
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D002872:Chromosome Deletion; D003001:Cloning, Molecular; D004247:DNA; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics*; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping
chemical_list: D016189:Dystrophin; D004247:DNA