Becker muscular dystrophy: demonstration of the carrier status of a female by immunoblotting and immunostaining.
Becker muscular dystrophy (BMD) often results from in-frame mutations of the dystrophin gene, leading to the production of an altered-sized protein. We examined the expression of dystrophin in a BMD patient and in his asymptomatic mother by Western blot and immunofluorescence. The combination of these techniques allowed us to demonstrate the presence of two different dystrophins, normal-sized or reduced-sized in the muscular fibers of the asymptomatic carrier. This result emphasizes the value of dystrophin analysis for carrier detection and genetic counselling of families with Becker muscular dystrophy.
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MP
INSERM U249/CNRS UPR 8402, Institut de Biologie, Montpellier, France.
Tuffery
S
S
Echenne
B
B
Demaille
J
J
Claustres
M
M
D000293:Adolescent; D000328:Adult; D000911:Antibodies, Monoclonal; D015153:Blotting, Western; D016189:Dystrophin / Q000235:genetics* / Q000276:immunology; D005260:Female; D005455:Fluorescent Antibody Technique; D006579:Heterozygote; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology
D000911:Antibodies, Monoclonal; D016189:Dystrophin