title: Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy.
abstract: 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.
authors.affiliation: Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, UK.
authors.forename: D J
authors.initials: DJ
authors.lastname: Bunyan
authors.forename: D O
authors.initials: DO
authors.lastname: Robinson
authors.forename: A L
authors.initials: AL
authors.lastname: Collins
authors.forename: A E
authors.initials: AE
authors.lastname: Cockwell
authors.forename: H M
authors.initials: HM
authors.lastname: Bullman
authors.forename: P A
authors.initials: PA
authors.lastname: Whittaker
mesh_terms: 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
chemical_list: D016189:Dystrophin; D012333:RNA, Messenger