The Molecular Basis of Hereditary Fructose Intolerance in Italian Children)

Rita Santamaria, Maria Irene Scarano, Gabriella Esposito, L. Chiandetti, Paola Izzo, F. Salvatore

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

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 MDA4 previously described only in one British family, which may be an important cause of the disease in Italy.

Original languageEnglish
Pages (from-to)675-678
Number of pages4
JournalClinical Chemistry and Laboratory Medicine
Volume31
Issue number10
DOIs
Publication statusPublished - 1993

Fingerprint

Fructose Intolerance
Fructose
Alleles
Fructose-Bisphosphate Aldolase
Oligonucleotides
Amplification
Mutation
Substitution reactions
Genes
Defects
Italy
DNA

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

The Molecular Basis of Hereditary Fructose Intolerance in Italian Children). / Santamaria, Rita; Scarano, Maria Irene; Esposito, Gabriella; Chiandetti, L.; Izzo, Paola; Salvatore, F.

In: Clinical Chemistry and Laboratory Medicine, Vol. 31, No. 10, 1993, p. 675-678.

Research output: Contribution to journalArticle

Santamaria, Rita ; Scarano, Maria Irene ; Esposito, Gabriella ; Chiandetti, L. ; Izzo, Paola ; Salvatore, F. / The Molecular Basis of Hereditary Fructose Intolerance in Italian Children). In: Clinical Chemistry and Laboratory Medicine. 1993 ; Vol. 31, No. 10. pp. 675-678.
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