Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population.
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.
Gruchota
Jakub
J
Department of Forensic Medicine, Medical University of Warsaw, Poland.
Pronicka
Ewa
E
Korniszewski
Lech
L
Stolarski
Bartosz
B
Pollak
Agnieszka
A
Rogaszewska
Małgorzata
M
Płoski
Rafał
R
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
D005634:Fructose-Bisphosphate Aldolase