logo BDSP

Base documentaire

  1. Improved predictive carrier testing for familial adenomatous polyposis using DNA from a single archival specimen and polymorphic markers with multiple alleles.

    Article - En anglais

    Familial adenomatous polyposis (FAP) is an autosomal dominant inherited condition caused by mutations in a candidate tumor suppressor gene, adenomatous polyposis coli.

    Predictive carrier testing for FAP can be accomplished by DNA linkage or mutation detection analysis.

    In many FAP families all affected individuals are deceased.

    Archival tissue of DNA for molecular analysis.

    We investigated the carrier risk of a presymptomtic 5-year-old girl with a family history of FAP.

    An archival specimen of normal colonic tissue was only available form the proband's affected deceased father.

    Mots-clés Pascal : Appareil digestif pathologie, Intestin pathologie, Maladie héréditaire, Tumeur bénigne, Facteur risque, Homme, Côlon, Etude familiale, Anatomopathologie, Biologie moléculaire, Polypose, Mutation, Inclusion histologique, Gène, Réaction chaîne polymérase, DNA, Lésion précancéreuse

    Mots-clés Pascal anglais : Digestive diseases, Intestinal disease, Genetic disease, Benign neoplasm, Risk factor, Human, Colon, Family study, Pathology, Molecular biology, Polyposis, Mutation, Histological inclusion, Gene, Polymerase chain reaction, DNA, Premalignant lesion

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

    Cote : 94-0227384

    Code Inist : 002B13B01. Création : 199406.