title: Oligonucleotide ligation assay (OLA) for the diagnosis of familial hypercholesterolemia.
abstract: More than half of all deaths in Western society are related to arteriosclerotic cardiovascular diseases. Inherited disturbances in the low-density-lipoprotein (LDL) receptor and similar lipid-related defects account for the majority of these deaths. Testing procedures thus far rely on total cholesterol, LDL cholesterol, high-density-lipoprotein cholesterol, and triglyceride determinations. These tests are not able to provide any genetic information. We have developed an oligonucleotide ligation assay (OLA) that enables us to screen for high-risk individuals by testing for 19 common mutations in the LDL receptor and the apolipoprotein B genes using an automated genotyping-based two-step protocol. The novel OLA uses oligomeric pentaethyleneoxide mobility modifiers. The automated test will be useful in screening large populations for genetic data to distinguish relative from absolute risk, as well as for cost-effective familial analysis.
authors.affiliation: Franz Volhard Clinic at the Max Delbrück Center for Molecular Medicine, Virchow Klinikum, Humboldt University of Berlin, Germany.
authors.forename: H
authors.initials: H
authors.lastname: Baron
authors.forename: S
authors.initials: S
authors.lastname: Fung
authors.forename: A
authors.initials: A
authors.lastname: Aydin
authors.forename: S
authors.initials: S
authors.lastname: Bähring
authors.forename: F C
authors.initials: FC
authors.lastname: Luft
authors.forename: H
authors.initials: H
authors.lastname: Schuster
mesh_terms: D001055:Apolipoproteins B / Q000235:genetics; D001483:Base Sequence; D001709:Biotechnology; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D005821:Genetic Techniques; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D015345:Oligonucleotide Probes / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011973:Receptors, LDL / Q000235:genetics
chemical_list: D001055:Apolipoproteins B; D017931:DNA Primers; D015345:Oligonucleotide Probes; D011973:Receptors, LDL