title: Apolipoprotein B-100: employing the electrochemiluminescence technology of the Elecsys systems for the detection of the point mutation Arg(3500)Gln.
abstract: Apolipoprotein B-100 (apo B-100) plays an essential role in lipoprotein metabolism where it is involved in the clearance of LDL particles from the bloodstream. The mutation Arg3500Gln in the apo B-100 gene impairs the binding of the LDL particles to the LDL receptor, resulting in elevated LDL-cholesterol levels in the blood which, in turn, fuel the development of premature atherosclerosis. Here we describe a rapid, automated test for the detection of the most frequent mutation in the apo B-100 gene. This PCR-based test employs electrochemiluminescence as detection technology and allows the reliable discrimination of all genotypes. The assay has been especially developed for the non-specialized routine clinical chemistry laboratory by employing an analyzer and chemistry often present in this type of labof1tory. Because of its low costs and easy handling the assay can be performed on a daily basis.
authors.affiliation: Institut für Klinische Chemie, Universität zu Köln, Germany.
authors.forename: K R
authors.initials: KR
authors.lastname: Klingler
authors.forename: D
authors.initials: D
authors.lastname: Zech
authors.forename: K
authors.initials: K
authors.lastname: Wielckens
mesh_terms: D019943:Amino Acid Substitution; D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000235:genetics*; D001120:Arginine; D001322:Autoanalysis / Q000379:methods; D005838:Genotype; D005973:Glutamine; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008163:Luminescent Measurements; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D015203:Reproducibility of Results
chemical_list: D053299:Apolipoprotein B-100; D001055:Apolipoproteins B; D005973:Glutamine; D001120:Arginine