title: Prenatal diagnosis of Duchenne/Becker muscular dystrophy by short tandem repeat segregation analysis in Argentine families.
abstract: BACKGROUND
  Duchenne/Becker muscular dystrophies (DMD/BMD) are X-linked recessive diseases caused by mutations in the dystrophin gene.
  
  
  METHODS
  We used multiplex polymerase chain reaction (PCR) and short tandem repeat (STR) segregation analysis for DMD/BMD-carrier detection and prenatal diagnosis.
  
  
  RESULTS
  Twenty-four at-risk pregnancies were evaluated: 17 were excluded from carrying dystrophin gene mutations with 95-100% certainty. Of the remaining cases, 2 were determined to carry a dystrophin gene mutation with 95-100% certainty. Three cases had a 67% probability of carrying the mutation, and 2 others were not informative. The certainty of the test increased to ~100% in some cases due to the identification of several genetic events: 4 recombinations; 4 de novo mutations; and 8 deletions encompassing some of the STRs evaluated.
  
  
  CONCLUSIONS
  Overall, 19 of 24 (79%) molecular prenatal diagnoses were informative, indicating that multiplex PCR/STR segregation analysis is a reliable method for carrier detection and prenatal diagnosis when other more sophisticated techniques are unavailable.
authors.affiliation: Department of Genetics and Molecular Biology, Faculty of Pharmacy and Biochemistry, University of Buenos Aires, Carlos Calvo 856 1° A, CP 1102, Capital Federal, Buenos Aires, Argentina. florgiliberto@hotmail.com
authors.forename: Florencia
authors.initials: F
authors.lastname: Giliberto
authors.forename: Verónica
authors.initials: V
authors.lastname: Ferreiro
authors.forename: Francisco
authors.initials: F
authors.lastname: Massot
authors.forename: Marcela
authors.initials: M
authors.lastname: Ferrer
authors.forename: Liliana
authors.initials: L
authors.lastname: Francipane
authors.forename: Irene
authors.initials: I
authors.lastname: Szijan
mesh_terms: D001118:Argentina; D016189:Dystrophin / Q000235:genetics; D005260:Female; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics*; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000235:genetics; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D016189:Dystrophin