title: Rapid direct diagnosis of deletions carriers of Duchenne and Becker muscular dystrophies.
abstract: 13 families and 34 women at risk of being carriers of Duchenne and Becker muscular dystrophies were analysed blind by restriction fragment length polymorphisms (RFLPs) and a new, non-radioactive direct test based on competitive polymerase-chain-reaction (PCR) amplification. All obligate carriers were correctly diagnosed by RFLPs and competitive PCR, and 7 women with a 99% risk of being carriers were also diagnosed carriers by competitive PCR. There were no false positives or false negatives. Only 1 PCR result was non-informative. Our test allows rapid, precise, and direct carrier diagnosis of women whose relatives have a known deletion of the dystrophin gene.
authors.affiliation: Department of Experimental Pathology, UMDS Guy's Hospital, London, UK.
authors.forename: A
authors.initials: A
authors.lastname: Fassati
authors.forename: S
authors.initials: S
authors.lastname: Tedeschi
authors.forename: A
authors.initials: A
authors.lastname: Bordoni
authors.forename: P
authors.initials: P
authors.lastname: Amboni
authors.forename: C
authors.initials: C
authors.lastname: Curcio
authors.forename: N
authors.initials: N
authors.lastname: Bresolin
authors.forename: G
authors.initials: G
authors.lastname: Scarlato
mesh_terms: D005188:False Negative Reactions; D005189:False Positive Reactions; D005260:Female; D017353:Gene Deletion; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length