title: Apolipoprotein A-IV polymorphism in the Hungarian population: gene frequencies, effect on lipid levels, and sequence of two new variants.
abstract: The genetic polymorphism of human apolipoprotein A-IV was investigated in Hungarian blood donors (n = 202) by isoelectric focusing (IEF) of plasma samples followed by immunoblotting. The frequency of apo A-IV alleles was f(A-IV1) = 0.95, f(A-IV2) = 0.039 and f(A-IV3) = 0.002. This frequency distribution is significantly different from other Caucasian populations (P < 0.05). The association of apo A-IV phenotypes with HDL-cholesterol concentration which was previously described for two other European populations was only of borderline significance (P = 0.08). Three previously undescribed apo A-IV variants, designated Budapest-1, Budapest-2 and Budapest-3, were detected by IEF. The mutant proteins are not associated with alterations in the lipid/lipoprotein concentrations in heterozygotes. DNA-sequencing revealed two point mutations (Arg285-->Cys and Thr347-->Ser) in exon 3 of apo A-IV-Budapest-1 and a Glu-->Lys substitution at position 24 in exon 2 of apo A-IV-Budapest-2.
authors.affiliation: Institute for Medical Biology and Human Genetics, University of Innsbruck, Austria.
authors.forename: H J
authors.initials: HJ
authors.lastname: Menzel
authors.forename: H
authors.initials: H
authors.lastname: Dieplinger
authors.forename: C
authors.initials: C
authors.lastname: Sandholzer
authors.forename: I
authors.initials: I
authors.lastname: Karádi
authors.forename: G
authors.initials: G
authors.lastname: Utermann
authors.forename: A
authors.initials: A
authors.lastname: Császár
mesh_terms: D000328:Adult; D000483:Alleles; D001054:Apolipoproteins A / Q000097:blood / Q000235:genetics*; D001483:Base Sequence; D001782:Blood Donors; D004247:DNA / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D006814:Hungary; D008055:Lipids / Q000097:blood; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D001054:Apolipoproteins A; D008055:Lipids; C022205:apolipoprotein A-IV; D004247:DNA