Rare variant of apolipoprotein E (Arg136-->Cys) in a subject with normal lipid values.
During the screening of apolipoprotein (apo) E gene polymorphism with PCR and subsequent restriction analysis, we have identified a female carrier with a mutant allele Arg136-->Cys. This proband had normal lipid parameters and no history of coronary artery disease (CAD). We did not confirm the previously described connection between apo E Arg136-->Cys mutation and elevated lipid levels. In the case of this mutation, other factors (environmental and/or genetic) are important for the development of lipid metabolism disorders.
Hubacek
J A
JA
Institute for Clinical and Experimental Medicine, Laboratory of Atherosclerosis Research, Centre for Experimental Cardiovascular Research, Prague, Czech Republic. jaroslav.hubacek@medicon.cz
Pitha
J
J
Skodová
Z
Z
Poledne
R
R
D000368:Aged; D000483:Alleles; D001057:Apolipoproteins E / Q000235:genetics*; D005260:Female; D006801:Humans; D008055:Lipids / Q000097:blood*; D008079:Lipoproteins, VLDL / Q000097:blood; D011110:Polymorphism, Genetic / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction
D001057:Apolipoproteins E; D008055:Lipids; D008079:Lipoproteins, VLDL