Molecular diagnosis of Duchenne muscular dystrophy by use of a conformational polymorphism in the absence of DNA from an affected boy.
We report the molecular diagnosis of Duchenne muscular dystrophy (DMD) in an extended pedigree by use of a conformational polymorphism detected by the SSCP method, which allowed direct prenatal diagnosis and carrier detection while no DNA from an affected boy was available.
Tuffery
S
S
Laboratoire de Biochimie Génétique, CNRS UPR 9008/CRBM U249 INSERM, Institut de Biologie, Montpellier, France.
Moine
P
P
Sarda
P
P
Lefort
G
G
Boulot
P
P
Demaille
J
J
Claustres
M
M
D015193:Chorionic Villi Sampling; D004247:DNA / Q000235:genetics*; D016189:Dystrophin / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011487:Protein Conformation
D016189:Dystrophin; D004247:DNA