A small intraexonic deletion within the dystrophin gene suggests a possible mechanism of mutagenesis.
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.
Robinson
D O
DO
Wessex Regional Genetics Laboratory, Salisbury District Hospital, UK.
Bunyan
D J
DJ
Gabb
H A
HA
Temple
I K
IK
Yau
S C
SC
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
D017931:DNA Primers; D016189:Dystrophin; D004247:DNA