[Genetic studies of Duchenne muscular dystrophy families using the dystrophy families using the dystrophin cDNA].
The cDNA probes for the Duchenne muscular dystrophy (DMD) gene can detect deletions in over 50% of affected males and provide a highly accurate diagnostic test in the affected families. We present the results of our recent molecular genetic studies of five DMD families (six affected males and 16 non-affected family members) by using the dystrophin cDNA. Five molecular deletions were identified in the DNA samples of six affected males by studying abnormalities of Hind III and Bgl II fragments detected by the entire dystrophin cDNA. We could not find any abnormality in a family by the same DNA analysis. Deletion was found at two different loci; in two of six probands, it was located near 5' region of the gene seen by cDNA segment 1-2 a, while in the other three, near the center of the gene covered by cDNA segment 8. In three females of the five families, we detected novel fragments, the size of which was altered due to molecular deletion. These results greatly facilitated diagnosis of the carrier status in females. We studied also the dystrophin location in the biopsied skeletal muscle (femoral muscle) in a family, by means of indirect immunofluorescence staining using antiserum against dystrophin. Dystrophin was positive in the surface membrane of muscles from a non-affected brother, mother and sister, but it was absent in the muscle from a DMD proband.
Saito
K
K
Tanaka
A
A
Harada
T
T
Ikeya
K
K
Fukuyama
Y
Y
Arahata
K
K
Sugita
H
H
Osawa
M
M
Shishikura
K
K
Suzuki
H
H
D015342:DNA Probes; D016189:Dystrophin; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006801:Humans; D009124:Muscle Proteins / Q000235:genetics; D009136:Muscular Dystrophies / Q000235:genetics*
D015342:DNA Probes; D016189:Dystrophin; D009124:Muscle Proteins