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  1. Gaucher disease : N370S glucocerebrosidase gene frequency in the portuguese population.

    Article - En anglais

    In the Portuguese population the most frequent form of Gaucher disease is type 1. The N370S glucocerebrosidase gene mutation accounts for 63°/n of mutated alleles.

    The frequency of this mutation was accurately determined in the Portuguese population, which does not present an Ashkenazi Jewish genetic background.

    A gene frequency of 0.0043, with 95% confidence limits between 0.0023 and 0.0063, was obtained studying the genomic DNA of 2000 blood cards randomly sampled from the national neonatal screening program.

    On the basis of this frequency n significantly high number of homozygotes for the N370S mutation should be expected in the Portuguese population.

    Mots-clés Pascal : Sphingolipidose héréditaire Gaucher, Fréquence génique, Homme, Portugal, Europe, Glucosylceramidase, O-Glycosidases, Glycosidases, Hydrolases, Enzyme, Mutation, Homozygotie, Epidémiologie, Enzymopathie, Lipide, Métabolisme pathologie, Lipoïdose, Système nerveux pathologie, Système nerveux central pathologie, Encéphale pathologie, Maladie héréditaire

    Mots-clés Pascal anglais : Gaucher disease, Gene frequency, Human, Portugal, Europe, Glucosylceramidase, O-Glycosidases, Glycosidases, Hydrolases, Enzyme, Mutation, Homozygozity, Epidemiology, Enzymopathy, Lipids, Metabolic diseases, Lipoidosis, Nervous system diseases, Central nervous system disease, Cerebral disorder, Genetic disease

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

    Cote : 94-0529713

    Code Inist : 002B22D02. Création : 199501.