title: A small intraexonic deletion within the dystrophin gene suggests a possible mechanism of mutagenesis.
abstract: A case of Duchenne muscular dystrophy is described with an unusual mutation consisting of a 17-bp deletion within exon 47 of the dystrophin gene. The sequences on either side of the deletion have a high degree of intrastrand base complementarity. It is hypothesised that the mechanism generating the deletion may have been the formation of hairpin loop structure in a single strand of DNA followed by enzymatic degradation at unpaired regions within the loop.
authors.affiliation: Wessex Regional Genetics Laboratory, Salisbury District Hospital, UK.
authors.forename: D O
authors.initials: DO
authors.lastname: Robinson
authors.forename: D J
authors.initials: DJ
authors.lastname: Bunyan
authors.forename: H A
authors.initials: HA
authors.lastname: Gabb
authors.forename: I K
authors.initials: IK
authors.lastname: Temple
authors.forename: S C
authors.initials: SC
authors.lastname: Yau
mesh_terms: D000465:Algorithms; D001483:Base Sequence; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry / Q000235:genetics; D017931:DNA Primers; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics*; D016296:Mutagenesis; D009690:Nucleic Acid Conformation; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011237:Predictive Value of Tests; D017384:Sequence Deletion
chemical_list: D017931:DNA Primers; D016189:Dystrophin; D004247:DNA