title: Partial aldolase B gene deletions in hereditary fructose intolerance.
abstract: Hereditary fructose intolerance (HFI) is an autosomal recessive condition caused by a deficiency of aldolase B. We have recently shown that three point mutations in this gene account for approximately 85% of HFI alleles in Europe and the United States and are thus of diagnostic importance. In this paper we define three new lesions in the aldolase B gene: two are large deletions, one of 1.65 kb and one of 1.4 kb; the third is a small deletion of 4 bp. We have determined the breakpoints of these deletions and have demonstrated that the presence of such lesions may complicate the genotyping of individuals for diagnosis of HFI.
authors.affiliation: Department of Haematology, Royal Postgraduate Medical School, Hammersmith Hospital, London.
authors.forename: N C
authors.initials: NC
authors.lastname: Cross
authors.forename: T M
authors.initials: TM
authors.lastname: Cox
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D002872:Chromosome Deletion; D015342:DNA Probes; D005633:Fructose Intolerance / Q000201:enzymology / Q000235:genetics*; D015318:Fructose Metabolism, Inborn Errors / Q000235:genetics*; D005634:Fructose-Bisphosphate Aldolase / Q000172:deficiency / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D015183:Restriction Mapping
chemical_list: D015342:DNA Probes; D005634:Fructose-Bisphosphate Aldolase