title: Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population.
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.
authors.affiliation: Department of Forensic Medicine, Medical University of Warsaw, Poland.
authors.forename: Jakub
authors.initials: J
authors.lastname: Gruchota
authors.forename: Ewa
authors.initials: E
authors.lastname: Pronicka
authors.forename: Lech
authors.initials: L
authors.lastname: Korniszewski
authors.forename: Bartosz
authors.initials: B
authors.lastname: Stolarski
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Pollak
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Rogaszewska
authors.forename: Rafał
authors.initials: R
authors.lastname: Płoski
mesh_terms: D005633:Fructose Intolerance / Q000453:epidemiology / Q000235:genetics*; D005634:Fructose-Bisphosphate Aldolase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D011044:Poland / Q000453:epidemiology; D015995:Prevalence
chemical_list: D005634:Fructose-Bisphosphate Aldolase