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  1. Carrier estimations in Duchenne muscular dystrophy families in Northern Ireland using RFLP analysis.

    Article - En anglais

    Intragenic RFLP analysis was used to provide carrier risk estimations on 100 possible female carriers from 22 Duchenne muscular dystrophy families.

    This enabled 78% of possible carriers to be assigned high or low risk (>90% or <10%) as opposed to 26% assigned low risk on pedigree data alone.

    When a single polymorphism is not informative the use of haplotype analysis for carrier estimations is illustrated for one family.

    Mots-clés Pascal : Royaume Uni, Europe, Dystrophie musculaire progressive Duchenne, Muscle strié pathologie, Ulster, Maladie héréditaire, Système nerveux pathologie, Haplotype, Polymorphisme longueur fragment restriction, Dépistage, Epidémiologie, Homme, Femelle, Hétérozygotie, Etude familiale

    Mots-clés Pascal anglais : United Kingdom, Europe, Duchenne muscular dystrophy, Striated muscle disease, Northern Ireland, Genetic disease, Nervous system diseases, Haplotype, Restriction fragment length polymorphism, Screening, Epidemiology, Human, Female, Heterozygozity, Family study

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

    Cote : 91-0074354

    Code Inist : 002B17H. Création : 199406.