Apolipoprotein A-IV polymorphism in the Hungarian population

Gene frequencies, effect on lipid levels, and sequence of two new variants

H. J. Menzel, H. Dieplinger, C. Sandholzer, I. Karádi, G. Utermann, A. Császár

Research output: Contribution to journalArticle

13 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)58-65
Number of pages8
JournalHuman Mutation
Volume5
Issue number1
DOIs
Publication statusPublished - 1995

Fingerprint

Gene Frequency
Lipids
Population
Isoelectric Focusing
Exons
Genetic Polymorphisms
Mutant Proteins
Heterozygote
Blood Donors
DNA Sequence Analysis
Point Mutation
Immunoblotting
HDL Cholesterol
Lipoproteins
apolipoprotein A-IV
Alleles
Phenotype

Keywords

  • Apolipoprotein A-IV
  • Hungarian blood donors
  • Isoelectric focusing

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Apolipoprotein A-IV polymorphism in the Hungarian population : Gene frequencies, effect on lipid levels, and sequence of two new variants. / Menzel, H. J.; Dieplinger, H.; Sandholzer, C.; Karádi, I.; Utermann, G.; Császár, A.

In: Human Mutation, Vol. 5, No. 1, 1995, p. 58-65.

Research output: Contribution to journalArticle

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