Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Comparative Study
, 335 (8685), 306-9

Molecular Analysis of Aldolase B Genes in Hereditary Fructose Intolerance

Affiliations
Comparative Study

Molecular Analysis of Aldolase B Genes in Hereditary Fructose Intolerance

N C Cross et al. Lancet.

Abstract

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.

Comment in

Similar articles

See all similar articles

Cited by 28 PubMed Central articles

See all "Cited by" articles

Publication types

Substances

LinkOut - more resources

Feedback