Clinical Chemistry
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Clinical Chemistry 40: 24-29, 1994;
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Clinical Chemistry, Vol 40, 24-29, Copyright © 1994 by American Association for Clinical Chemistry

Common and rare genotypes of human apolipoprotein E determined by specific restriction profiles of polymerase chain reaction-amplified DNA

P Richard, G Thomas, MP de Zulueta, JL De Gennes, M Thomas, A Cassaigne, G Bereziat and A Iron
Departement de Biochimie Medicale et Biologie Moleculaire, Universite de Bordeaux II, France.

The three common isoforms of human apolipoprotein E (apo E) differ at positions 112 and 158 and are named E3, E4, and E2 according to phenotyping by isoelectric focusing (IEF). The polymerase chain reaction (PCR) method allows the detection of common and several rare allelic apo E variants not detected by IEF. We propose a genotyping procedure for apo E that characterizes a given allele on the basis of amplification of specific sequences of the gene followed by the action of restriction endonucleases. When the nucleotide change does not lead to a restriction site, PCR-directed mutagenesis creates the discriminant site, and the differentiation of the three common alleles and five rare variants is possible. We present here profiles of common alleles and of three rare alleles, Weisgraber [Cys112/Asp127/Cys158], Christchurch [Cys112/Ser136/Arg158], and a new rare variant [Cys112/Leu142/Cys158].


The following articles in journals at HighWire Press have cited this article:


Home page
 J. Lipid Res.Home page
M. K. Bolla, N. Wood, and S. E. Humphries
Rapid determination of apolipoprotein E genotype using a heteroduplex generator
J. Lipid Res., December 1, 1999; 40(12): 2340 - 2345.
[Abstract] [Full Text] [PDF]


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Copyright © 1994 by the American Association for Clinical Chemistry.