title: Molecular analysis of aldolase B genes in hereditary fructose intolerance.
abstract: The molecular basis of hereditary fructose intolerance (HFI) was studied in 50 subjects (41 pedigrees, 82 apparently independent mutant alleles of aldolase B) by direct analysis of aldolase B genes amplified by means of the polymerase chain reaction. The mutation A149P (ala 149----pro) was found in 67% of alleles but was significantly more common in patients from northern than from southern Europe. Two other point mutations of aldolase B were identified. A174D (C----A; ala 174----asp) was found in subjects from Italy, Switzerland, and Yugoslavia (overall frequency 16%) but not in those from the United Kingdom, France, or the United States. L288 delta C carried a single base-pair deletion causing frameshift at codon 288 and was restricted to Sicilian subjects. By testing for these mutations in amplified DNA with a limited panel of allele-specific oligonucleotides, more than 95% of HFI patients will be susceptible to genetic diagnosis.
authors.affiliation: Department of Haematology, Royal Postgraduate Medical School, London, UK.
authors.forename: N C
authors.initials: NC
authors.lastname: Cross
authors.forename: R
authors.initials: R
authors.lastname: de Franchis
authors.forename: G
authors.initials: G
authors.lastname: Sebastio
authors.forename: C
authors.initials: C
authors.lastname: Dazzo
authors.forename: D R
authors.initials: DR
authors.lastname: Tolan
authors.forename: C
authors.initials: C
authors.lastname: Gregori
authors.forename: M
authors.initials: M
authors.lastname: Odievre
authors.forename: M
authors.initials: M
authors.lastname: Vidailhet
authors.forename: V
authors.initials: V
authors.lastname: Romano
authors.forename: G
authors.initials: G
authors.lastname: Mascali
mesh_terms: D000483:Alleles; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D005060:Europe / Q000208:ethnology; D005091:Exons; D005633:Fructose Intolerance / Q000208:ethnology / Q000235:genetics*; D015318:Fructose Metabolism, Inborn Errors / Q000235:genetics*; D005634:Fructose-Bisphosphate Aldolase / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D015345:Oligonucleotide Probes; D016133:Polymerase Chain Reaction / Q000379:methods; D006113:United Kingdom / Q000208:ethnology; D014481:United States / Q000208:ethnology
chemical_list: D015345:Oligonucleotide Probes; D005634:Fructose-Bisphosphate Aldolase