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  1. Relatively low proportion of dystrophin gene deletions in Israeli Duchenne and Becker muscular dystrophy patients.

    Article - En anglais

    Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic disorders caused by mutations in the X-linked dystrophin gene.

    The most common mutations in western populations are deletions that are spread non-randomly throughout the gene.

    Molecular analysis of the dystrophin gene structure by hybridization of the full length cDNA to Southern blots and by PCR in 62 unrelated Israeli male DMD/BMD patients showed deletions in 23 (37%). This proportion is significantly lower than that found in European and North American populations (55-65%). Seventy-eight percent of the deletions were confined to exons 44-52, half of these to exons 44-45, and the remaining 22% to exons 1 and 19.

    Mots-clés Pascal : Dystrophie musculaire progressive Duchenne, Dystrophie musculaire progressive Becker, Homme, Délétion, Dystrophine, Israël, Asie, Génétique épidémiologique, Epidémiologie, Système nerveux pathologie, Neuromusculaire pathologie, Maladie héréditaire

    Mots-clés Pascal anglais : Duchenne muscular dystrophy, Becker muscular dystrophy, Human, Deletion, Dystrophin, Israel, Asia, Epidemiologic genetics, Epidemiology, Nervous system diseases, Neuromuscular diseases, Genetic disease

    Logo du centre Notice produite par :
    Inist-CNRS - Institut de l'Information Scientifique et Technique

    Cote : 94-0214865

    Code Inist : 002B17G. Création : 199406.