We investigated the molecular defects of the aldolase B gene in five unrelated patients affected by hereditary fructose intolerance. The techniques used were DNA amplification, direct sequencing and allele-specific oligonucleotide (ASO) hybridization. The most frequent substitutions found in the hereditary fructose intolerance alleles analysed were the A174D and the A149P mutations, which account for 50% and 30% of the alleles, respectively. In two unrelated families, we found a rare mutation, the MDΔ4 previously described only in one British family, which may be an important cause of the disease in Italy.
|Number of pages||4|
|Journal||European Journal of Clinical Chemistry and Clinical Biochemistry|
|Publication status||Published - 1993|
ASJC Scopus subject areas
- Clinical Biochemistry