Rapid direct diagnosis of deletions carriers of Duchenne and Becker muscular dystrophies.
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.
Fassati
A
A
Department of Experimental Pathology, UMDS Guy's Hospital, London, UK.
Tedeschi
S
S
Bordoni
A
A
Amboni
P
P
Curcio
C
C
Bresolin
N
N
Scarlato
G
G
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