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 o...

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Bibliographic Details
Published inZhurnal nevrologii i psikhiatrii imeni S.S. Korsakova Vol. 99; no. 3; p. 41
Main Authors Krakhmaleva, I N, Lipatova, N A, Shishkin, S S, Shakhovskaia, N I
Format Journal Article
LanguageRussian
Published Russia (Federation) 1999
Subjects
Adolescent
Child
Child, Preschool
DNA Primers - genetics
Dystrophin - genetics
Exons - genetics
Gene Amplification - genetics
Gene Deletion
Humans
Male
Muscular Dystrophies - genetics
Point Mutation - genetics
Polymerase Chain Reaction - methods
Promoter Regions, Genetic - genetics
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Summary: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.
ISSN:1997-7298