title: Identification of a new apolipoprotein E variant (E2 Arg142-->Leu) in type III hyperlipidemia.
abstract: A new rare apolipoprotein E mutant was identified as we were investigating the apolipoprotein E genotype of patients with type III hyperlipidemia (HLP III). The unusual DNA restriction fragment length polymorphism profile and then the sequence analysis of a PCR amplified fragment of the proband's apo E gene revealed a simple base substitution (G-->T) at nucleotide 3836. This mutation leads to the replacement of arginine by leucine at position 142 of the mature protein. The proband carried the mutant allele at the heterozygous status with an epsilon 3 allele. Subsequently, analysis of the proband's father's apo E gene showed that same mutated allele associated with an epsilon 2 allele. The two subjects presented a dysbetalipoproteinemia in which this new apo E variant could be implicated.
authors.affiliation: Département de Biochimie Médicale et Biologie Moléculaire, Université de Bordeaux, France.
authors.forename: P
authors.initials: P
authors.lastname: Richard
authors.forename: M P
authors.initials: MP
authors.lastname: de Zulueta
authors.forename: I
authors.initials: I
authors.lastname: Beucler
authors.forename: J L
authors.initials: JL
authors.lastname: De Gennes
authors.forename: A
authors.initials: A
authors.lastname: Cassaigne
authors.forename: A
authors.initials: A
authors.lastname: Iron
mesh_terms: D000368:Aged; D000595:Amino Acid Sequence; D001057:Apolipoproteins E / Q000235:genetics*; D002995:Clofibric Acid / Q000031:analogs & derivatives / Q000627:therapeutic use; D058607:Fibric Acids; D005838:Genotype; D006801:Humans; D006952:Hyperlipoproteinemia Type III / Q000097:blood / Q000188:drug therapy / Q000235:genetics*; D000960:Hypolipidemic Agents / Q000627:therapeutic use; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D017422:Sequence Analysis, DNA
chemical_list: D001057:Apolipoproteins E; D058607:Fibric Acids; D000960:Hypolipidemic Agents; D002995:Clofibric Acid; C019304:ciprofibrate