Menzel H J, Dieplinger H, Sandholzer C, Karádi I, Utermann G, Császár A
Institute for Medical Biology and Human Genetics, University of Innsbruck, Austria.
Hum Mutat. 1995;5(1):58-65. doi: 10.1002/humu.1380050108.
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.
