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  1. Neonatal screening for hereditary fructose intolerance : frequency of the most common mutant aldolase B allele (A149P) in the British population.

    Article - En anglais

    Hereditary fructose intolerance (HFI) causes severe and sometimes fatal metabolic disturbances in infants and children but responds to dietary treatment.

    To determine the practicability of screening newborn infants for HFI, we have investigated the frequency of the most common and widespread mutant allele of aldolase B, A149P, in the neonatal population.

    The polymerase chain reaction was used to amplify aldolase B exon 5 genomic sequences in DNA present in dried blood specimens preserved on Guthrie cards.

    The A149P mutation was identified by discriminatory hybridisation to allele specific oligonucleotides and confirmed independently by digestion with the restriction endonuclease BsaHI.

    Twenty-seven A149P heterozygotes were identified by the molecular analysis of aldolase B genes in blood samples obtained from a random cohort of 2050 subjects born in 1994 and 1995,1.32 ± 0.49% (95% confidence level).

    Although no A149P homozygotes were identified, the data allow the frequency of 1 in 23 000 homozygotes for this allele to be predicted.

    Out findings have implications for establishing an interventional mass screening programme to identify newborn infants with HFI in the UK.

    Mots-clés Pascal : Intolérance, Fructose, Dépistage, Fructose-bisphosphate aldolase, Aldehyde-lyases, Carbon-carbon lyases, Lyases, Enzyme, Allèle, Fréquence, Mutation, Réaction chaîne polymérase, Tache sang, Hybridation moléculaire, Nouveau né, Homme, Angleterre, Grande Bretagne, Royaume Uni, Europe, Appareil digestif pathologie, Enzymopathie, Métabolisme pathologie

    Mots-clés Pascal anglais : Intolerance, Fructose, Medical screening, Fructose-bisphosphate aldolase, Aldehyde-lyases, Carbon-carbon lyases, Lyases, Enzyme, Allele, Frequency, Mutation, Polymerase chain reaction, Blood trace, Molecular hybridization, Newborn, Human, England, Great Britain, United Kingdom, Europe, Digestive diseases, Enzymopathy, Metabolic diseases

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

    Cote : 97-0035514

    Code Inist : 002B22C. Création : 21/05/1997.