Genetics of the apolipoprotein-E isoprotein system in man.

The inheritance of the apoprotein-E isoprotein polymorphism in man has been studied by pedigree analysis. Alternative genotypes have been identified by the use of isoelectric focusing and two dimensional electrophoresis. A single locus three allele model can account for the inherited differences. In addition to the major bands there are also minor bands which may differ in charge or molecular weight or both, probably owing to post-translational modification. Their relative intensity has been compared in alternative categories of patient liable to raised serum lipoprotein concentration and only in hyperthyroid cases is there clear evidence of relative increase of post-translational activity which is reduced after restoration of the euthyroid state.