The molecular basis of hereditary fructose intolerance in Italian children

R. Santamaria, M. I. Scarano, G. Esposito, L. Chiandetti, P. Izzo, F. Salvatore

Research output: Contribution to journalArticle

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 MDΔ4 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
JournalEuropean Journal of Clinical Chemistry and Clinical Biochemistry
Volume31
Issue number10
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

Cite this

Santamaria, R., Scarano, M. I., Esposito, G., Chiandetti, L., Izzo, P., & Salvatore, F. (1993). The molecular basis of hereditary fructose intolerance in Italian children. European Journal of Clinical Chemistry and Clinical Biochemistry, 31(10), 675-678.

The molecular basis of hereditary fructose intolerance in Italian children. / Santamaria, R.; Scarano, M. I.; Esposito, G.; Chiandetti, L.; Izzo, P.; Salvatore, F.

In: European Journal of Clinical Chemistry and Clinical Biochemistry, Vol. 31, No. 10, 1993, p. 675-678.

Research output: Contribution to journalArticle

Santamaria, R, Scarano, MI, Esposito, G, Chiandetti, L, Izzo, P & Salvatore, F 1993, 'The molecular basis of hereditary fructose intolerance in Italian children', European Journal of Clinical Chemistry and Clinical Biochemistry, vol. 31, no. 10, pp. 675-678.
Santamaria, R. ; Scarano, M. I. ; Esposito, G. ; Chiandetti, L. ; Izzo, P. ; Salvatore, F. / The molecular basis of hereditary fructose intolerance in Italian children. In: European Journal of Clinical Chemistry and Clinical Biochemistry. 1993 ; Vol. 31, No. 10. pp. 675-678.
@article{3b29e978585c4368861651e9c755e059,
title = "The molecular basis of hereditary fructose intolerance in Italian children",
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 MDΔ4 previously described only in one British family, which may be an important cause of the disease in Italy.",
author = "R. Santamaria and Scarano, {M. I.} and G. Esposito and L. Chiandetti and P. Izzo and F. Salvatore",
year = "1993",
language = "English",
volume = "31",
pages = "675--678",
journal = "European Journal of Clinical Chemistry and Clinical Biochemistry",
issn = "0939-4974",
publisher = "Walter de Gruyter GmbH & Co. KG",
number = "10",

}

TY - JOUR

T1 - The molecular basis of hereditary fructose intolerance in Italian children

AU - Santamaria, R.

AU - Scarano, M. I.

AU - Esposito, G.

AU - Chiandetti, L.

AU - Izzo, P.

AU - Salvatore, F.

PY - 1993

Y1 - 1993

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0027489687&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0027489687&partnerID=8YFLogxK

M3 - Article

C2 - 8292669

VL - 31

SP - 675

EP - 678

JO - European Journal of Clinical Chemistry and Clinical Biochemistry

JF - European Journal of Clinical Chemistry and Clinical Biochemistry

SN - 0939-4974

IS - 10

ER -