Molecular analysis of aldolase B genes in hereditary fructose intolerance

Lancet. 1990 Feb 10;335(8685):306-9. doi: 10.1016/0140-6736(90)90603-3.


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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles*
  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Europe / ethnology
  • Exons
  • Fructose Intolerance / ethnology
  • Fructose Intolerance / genetics*
  • Fructose Metabolism, Inborn Errors / genetics*
  • Fructose-Bisphosphate Aldolase / genetics*
  • Genotype
  • Humans
  • Middle Aged
  • Mutation*
  • Oligonucleotide Probes
  • Polymerase Chain Reaction / methods
  • United Kingdom / ethnology
  • United States / ethnology


  • Oligonucleotide Probes
  • Fructose-Bisphosphate Aldolase