Apolipoprotein E Mutants, Hyperlipidemia and Arteriosclerosis

  • Gerd Utermann


A genetic polymorphism of apolipoprotein E was first described in 1977 and it was shown at that time that one phenotype in this genetic system is associated with primary dysbetalipoproteinemiaJ It is now well established that genetic apo E polymorphism is under the control of 3 common alleles (∑2, ∑3, ∑4) at the apo E structural gene locus, that specify for isoforms E2, E3, and E4 and have frequencies of 0.077 (∑2), 0.773 (∑3) and 0.150 (∑4) in the German population.2,3 Apo E2 and apo E4 differ from the parent apo E3 isoform by single cysteine for arginine interchanges at one of two positions in the primary structure: apo E2 (Arg158 → Cys) and apo E4 (Cys-112 → Arg).4,5 Examination of a DNA sequence that included the known apo E polymorphic sites showed that the mutant apo E phenotypes can be explained on the basis of a single base substitution in the first position of each of the respective codons.6


Single Base Substitution Human Apolipoprotein Slow Mobility Mixed Hyperlipidemia Lysine Analogue 
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Copyright information

© Plenum Press, New York 1985

Authors and Affiliations

  • Gerd Utermann
    • 1
  1. 1.Institut fuer Humangenetik und Genetische Poliklinik der Philipps-UnversitaetMarburgFederal Republic of Germany

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