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  1. The incidence of cystic fibrosis gene mutations in patients with congenital bilateral absence of the vas deferens in Scotland.

    Article - En anglais

    Objective To examine the incidence of cystic fibrosis transmembrane-conductance regulator (CFTR) gene mutations in Scottish patients with congenital bilateral absence of the vas deferens (CBAVD).

    Patients and methods Thirty patients with CBAVD presenting consecutively to the Edinburgh infertility clinic were examined for CFTR gene mutations.

    All patients were assessed clinically and tested for 15 gene mutations using a single-tube polymerase chain-reaction multiplex system.

    Results All patients were in good health and without clinical evidence of cystic fibrosis.

    CFTR gene mutations were found in 70% of patients with CBAVD.

    Conclusion CFTR gene-testing and genetic counselling are important in all men with CBAVD.

    Mots-clés Pascal : Mucoviscidose, Agénésie, Canal déférent, Bilatéral, Incidence, Ecosse, Grande Bretagne, Royaume Uni, Europe, Déterminisme génétique, Association morbide, Homme, Mâle, Appareil respiratoire pathologie, Appareil digestif pathologie, Pancréas pathologie, Maladie héréditaire, Métabolisme pathologie, Appareil génital mâle pathologie, Maladie congénitale, Malformation, Epidémiologie

    Mots-clés Pascal anglais : Cystic fibrosis, Agenesis, Vas deferens, Bilateral, Incidence, Scotland, Great Britain, United Kingdom, Europe, Genetic inheritance, Concomitant disease, Human, Male, Respiratory disease, Digestive diseases, Pancreatic disease, Genetic disease, Metabolic diseases, Male genital diseases, Congenital disease, Malformation, Epidemiology

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

    Cote : 97-0136865

    Code Inist : 002B20B01. Création : 21/05/1997.