[The dystrophin gene structure in patients with Duchenne myodystrophy].
The study was performed of the alterations within 17 exons and promoter region of dystrophin gene by means of multiplex DNA amplification in boys of Slavonic population with clinical diagnosis of muscular Duchenne's dystrophy. The dystrophin gene's deletions were found in different exons of 11 boys from 33 examined families, that is in 33% of the families. In 8 cases the deletions were clustered near a central part of dystrophin gene.
Krakhmaleva
I N
IN
Lipatova
N A
NA
Shishkin
S S
SS
Shakhovskaia
N I
NI
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D017931:DNA Primers / Q000235:genetics; D016189:Dystrophin / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005784:Gene Amplification / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods; D011401:Promoter Regions, Genetic / Q000235:genetics
D017931:DNA Primers; D016189:Dystrophin