title: Simple method for detection of mutations causing hereditary fructose intolerance.
abstract: Aldolase B is critical for sugar metabolism, and a catalytic deficiency due to mutations in its gene may result in hereditary fructose intolerance (HFI) syndrome, with hypoglycaemia and severe abdominal symptoms. This report describes two cases of HFI, which were identified by intravenous fructose tolerance test and a new RFLP (restriction fragment length polymorphism) test that detects the two most common mutations, A149P and A174D. The method includes PCR of a 224-base-pair segment of exon 5, a subsequent 3 h incubation with Cac8I and agarose electrophoresis, which reveals either or both of the mutations in one single reaction. The method might be useful for screening of these mutations, which may account for more than 70% of the mutations causing HFI.
authors.affiliation: Department of Pediatrics, Göteborg University, Sweden. carola.kullberg-lindh@pediat.gu.se
authors.forename: C
authors.initials: C
authors.lastname: Kullberg-Lindh
authors.forename: C
authors.initials: C
authors.lastname: Hannoun
authors.forename: M
authors.initials: M
authors.lastname: Lindh
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods*; D005091:Exons; D005633:Fructose Intolerance / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics*; D005634:Fructose-Bisphosphate Aldolase / Q000172:deficiency / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D004247:DNA; D005634:Fructose-Bisphosphate Aldolase