title: Molecular analysis of aldolase B genes in the diagnosis of hereditary fructose intolerance in the United Kingdom.
abstract: To investigate the molecular basis of hereditary fructose intolerance, we have studied 12 British patients, all of whom were found to carry a single mutation in the gene coding for aldolase B. We have estimated the frequency of this lesion, termed A149P, amongst affected individuals in the population and predict that a diagnosis may be made non-invasively in more than 83 per cent of cases by demonstrating the presence of this allele. Genetic diagnosis and detection of asymptomatic carriers of the disease may be achieved by the specific amplification of DNA derived from mouthwash samples followed by hybridization to allele-specific oligonucleotides.
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: D000293:Adolescent; D000328:Adult; D000483:Alleles; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D005633:Fructose Intolerance / Q000175:diagnosis / Q000235:genetics*; D015318:Fructose Metabolism, Inborn Errors / Q000235:genetics*; D005634:Fructose-Bisphosphate Aldolase / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D021141:Nucleic Acid Amplification Techniques; D009693:Nucleic Acid Hybridization; D010375:Pedigree
chemical_list: D005634:Fructose-Bisphosphate Aldolase