Apolipoprotein A-IV polymorphism in the Hungarian population: Gene frequencies, effect on lipid levels, and sequence of two new variants

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Abstract
The genetic polymorphism of human apolipoprotein A-IV was investigated in Hungarian blood donors (n = 202) by isoelectric focusing (IEF) of pfasma 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. DN A-sequencing reveafed 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. © 1995 Wiley-Liss Inc.

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