Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population

Jakub Gruchota; Ewa Pronicka; Lech Korniszewski; Bartosz Stolarski; Agnieszka Pollak; Małgorzata Rogaszewska; Rafał Płoski

doi:10.1016/j.ymgme.2005.11.010

Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population

Mol Genet Metab. 2006 Apr;87(4):376-8. doi: 10.1016/j.ymgme.2005.11.010. Epub 2006 Jan 10.

Authors

Jakub Gruchota¹, Ewa Pronicka, Lech Korniszewski, Bartosz Stolarski, Agnieszka Pollak, Małgorzata Rogaszewska, Rafał Płoski

Affiliation

¹ Department of Forensic Medicine, Medical University of Warsaw, Poland.

PMID: 16406649
DOI: 10.1016/j.ymgme.2005.11.010

Abstract

We studied 28 Polish hereditary fructose intolerant (HFI) patients (26 unrelated) by direct sequencing of the ALDOB coding region/splice sites. Eight different mutations were found including two novel ones (each found in two unrelated individuals): c.250delC (frameshift) and c.522 C > G (p.Y174X). The most frequent mutation c.448 G > C (p.A150P, 67% of chromosomes) was screened for in a group of 1049 randomly selected unrelated individuals. Eight (1:131) carriers were found allowing to estimate the HFI prevalence in Poland as 1:31,000.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Fructose Intolerance / epidemiology
Fructose Intolerance / genetics*
Fructose-Bisphosphate Aldolase / genetics*
Heterozygote
Humans
Mutation
Poland / epidemiology
Prevalence

Substances

Fructose-Bisphosphate Aldolase