title: Common and rare genotypes of human apolipoprotein E determined by specific restriction profiles of polymerase chain reaction-amplified DNA.
abstract: 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].
authors.affiliation: Département de Biochimie Médicale et Biologie Moléculaire, Université de Bordeaux II, France.
authors.forename: P
authors.initials: P
authors.lastname: Richard
authors.forename: G
authors.initials: G
authors.lastname: Thomas
authors.forename: M P
authors.initials: MP
authors.lastname: de Zulueta
authors.forename: J L
authors.initials: JL
authors.lastname: De Gennes
authors.forename: M
authors.initials: M
authors.lastname: Thomas
authors.forename: A
authors.initials: A
authors.lastname: Cassaigne
authors.forename: G
authors.initials: G
authors.lastname: Béréziat
authors.forename: A
authors.initials: A
authors.lastname: Iron
mesh_terms: D000483:Alleles; D001057:Apolipoproteins E / Q000235:genetics*; D001483:Base Sequence; D004262:DNA Restriction Enzymes; D015252:Deoxyribonucleases, Type II Site-Specific; D004591:Electrophoresis, Polyacrylamide Gel; D005838:Genotype; D006801:Humans; D007525:Isoelectric Focusing; D008969:Molecular Sequence Data; D016296:Mutagenesis; D009693:Nucleic Acid Hybridization; D015345:Oligonucleotide Probes; D016133:Polymerase Chain Reaction
chemical_list: D001057:Apolipoproteins E; D015345:Oligonucleotide Probes; D004262:DNA Restriction Enzymes; D015252:Deoxyribonucleases, Type II Site-Specific; C037130:GCGC-specific type II deoxyribonucleases