Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy.
The family of a male with Duchenne muscular dystrophy (DMD) and a deletion within the dystrophin gene has been studied. Polymerase chain reaction analysis of ectopic mRNA from peripheral blood T+B lymphocytes and the use of (CA)n repeat polymorphisms in and around the deleted region showed the proband's mother to be both a germline mosaic and a somatic mosaic for the deletion seen in her son. The mutation therefore occurred as a mitotic event early in embryogenesis.
Bunyan
D J
DJ
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK.
Robinson
D O
DO
Collins
A L
AL
Cockwell
A E
AE
Bullman
H M
HM
Whittaker
P A
PA
D002675:Child, Preschool; D016189:Dystrophin / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D006822:Hybrid Cells; D008297:Male; D009030:Mosaicism; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000235:genetics
D016189:Dystrophin; D012333:RNA, Messenger