title: [Carrier detection in Duchenne/Becker muscular dystrophy in the families in which the DNA of the affected person is not available].
abstract: BACKGROUND
  Duchenne muscular dystrophy (DMD) is a severe, progressive, X-linked muscular disease, which affects 1 in 3500 male newborns. The course of the other allelic form of the disease (Becker muscular dystrophy--BMD) is milder. Female relatives of affected subjects may carry the mutated gene.
  
  
  OBJECTIVE
  The purpose of this study was to detect the carrier among 23 families affected with DMD/BMD, in whom DNA from the deceased affected person was not available.
  
  
  METHODS
  The analysis of polymorphic sequences within the dystrophin gene was applied.
  
  
  RESULTS
  Informative results were obtained in 26 of 39 females examined (66%): 7 females were found to be carriers and 19 noncarriers. In one family the deletion could be detected in the mother and sister of the deceased proband.
authors.affiliation: Zakład Genetyki, Instytut Psychiatrii i Neurologii, Al. Sobieskiego 9, 02-957 Warszawa, Poland.
authors.forename: Janusz G
authors.initials: JG
authors.lastname: Zimowski
authors.forename: Elzbieta
authors.initials: E
authors.lastname: Fidzianska
authors.forename: Mariola
authors.initials: M
authors.lastname: Holding
authors.forename: Jacek
authors.initials: J
authors.lastname: Zaremba
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis / Q000379:methods*; D005192:Family Health; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000235:genetics*; D011044:Poland; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020080:Tandem Repeat Sequences