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  1. Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis. VII : And their population frequency.

    Article - En anglais

    Phosphofructokinase (PFK) catalyzes the rate-limiting step of glycolysis.

    Deficiency of the muscle enzyme is manifested by exercise intolerance and a compensated hemolytic anemia.

    Case reports of this autosomal recessive disease suggest a predominance in Ashkenazi jews in the United States.

    We have explored the genetic basis for this illness in nine affected families and surveyed the normal Ashkenazi population for the mutations we have found, Genomic DNA was amplified using PCR, and denaturing gradient-gel electrophoresis was used to localize exons with possible mutations.

    The polymorphic exons were sequenced or digested with restriction enzymes.

    A previously described splicing mutation, delta5, accounted for 11 (61%) of 18 abnormal alleles in the nine families.

    Mots-clés Pascal : Glycogénose VII, Mutation, Juif, Homme, Religion, Biologie moléculaire, Déterminisme génétique, Fréquence, Epidémiologie, Etats Unis, Amérique du Nord, Amérique, Israël, Asie, Glucide, Métabolisme pathologie, Maladie héréditaire, Enzymopathie

    Mots-clés Pascal anglais : Glycogenosis VII, Mutation, Jew, Human, Religion, Molecular biology, Genetic inheritance, Frequency, Epidemiology, United States, North America, America, Israel, Asia, Carbohydrate, Metabolic diseases, Genetic disease, Enzymopathy

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

    Cote : 94-0574436

    Code Inist : 002B22D03. Création : 09/06/1995.