title: The molecular basis of hereditary fructose intolerance in Italian children.
abstract: We investigated the molecular defects of the aldolase B gene in five unrelated patients affected by hereditary fructose intolerance. The techniques used were DNA amplification, direct sequencing and allele-specific oligonucleotide (ASO) hybridization. The most frequent substitutions found in the hereditary fructose intolerance alleles analysed were the A174D and the A149P mutations, which account for 50% and 30% of the alleles, respectively. In two unrelated families, we found a rare mutation, the MD delta 4 previously described only in one British family, which may be an important cause of the disease in Italy.
authors.affiliation: Dipartimento di Biochimica e Biotecnologie Mediche, Facoltà di Medicina e Chirurgia, Università di Napoli Federico II, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Santamaria
authors.forename: M I
authors.initials: MI
authors.lastname: Scarano
authors.forename: G
authors.initials: G
authors.lastname: Esposito
authors.forename: L
authors.initials: L
authors.lastname: Chiandetti
authors.forename: P
authors.initials: P
authors.lastname: Izzo
authors.forename: F
authors.initials: F
authors.lastname: Salvatore
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D002648:Child; D005633:Fructose Intolerance / Q000235:genetics*; D005634:Fructose-Bisphosphate Aldolase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007558:Italy; D008969:Molecular Sequence Data; D009154:Mutation; D009693:Nucleic Acid Hybridization; D015345:Oligonucleotide Probes
chemical_list: D015345:Oligonucleotide Probes; D005634:Fructose-Bisphosphate Aldolase