[Analysis of the Duchenne muscular dystrophy gene with PCR analysis in paraffin-embedded tissue. A new diagnostic possibility].
Analysis of DNA from archival, paraffin-embedded muscle tissue allowed tracing of the mutated dystrophin gene in two families with Duchenne muscular dystrophy. There were no living patients in these families. In one family this diagnosis contributed to the birth of a normal male, in the other family to the demonstration of carrier status. These analyses, based on the polymerase chain reaction, are relatively rapid and simple, and lend increased value to old tissue samples stored in pathology departments.
Apold
J
J
Avdeling for medisinsk genetikk Haukeland Sykehus, Bergen.
Eiken
H G
HG
Engebretsen
L F
LF
Boman
H
H
D004247:DNA / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D016612:Paraffin Embedding; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
D004247:DNA
Analyse av Duchenne-muskeldystrofigenet med PCR-analyse i parafininnstøpt vev. Ny diagnostisk mulighet.