Oligonucleotide ligation assay (OLA) for the diagnosis of familial hypercholesterolemia
- 1 October 1996
- journal article
- Published by Springer Nature in Nature Biotechnology
- Vol. 14 (10) , 1279-1282
- https://doi.org/10.1038/nbt1096-1279
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.Keywords
This publication has 20 references indexed in Scilit:
- Ten LDL Receptor Mutants Explain One Third of Familial Hypercholesterolemia in a German SampleArteriosclerosis, Thrombosis, and Vascular Biology, 1995
- Detection of Steroid 21-Hydroxylase Alleles Using Gene-Specific PCR and a Multiplexed Ligation Detection ReactionGenomics, 1995
- Oligonucleotides with fluorescent dyes at opposite ends provide a quenched probe system useful for detecting PCR product and nucleic acid hybridization.Genome Research, 1995
- A one-step coupled amplification and oligonucleotide ligation procedure for multiplex genetic typing.Genome Research, 1995
- Baseline characteristics in the Cholesterol and Recurrent Events (CARE) trial of secondary prevention in patients with average serum cholesterol levelsThe American Journal of Cardiology, 1995
- Fluorescence-based oligonucleotide ligation assay for analysis of cystic fibrosis transmembrane conductance regulator gene mutationsHuman Mutation, 1995
- Randomised trial of cholesterol lowering in 4444 patients with coronary heart disease: the Scandinavian Simvastatin Survival Study (4S)The Lancet, 1994
- Polyether tethered oligonucleotide probesJournal of the American Chemical Society, 1991
- Familial defective apolipoprotein B-100. Comparison with familial hypercholesterolemia in 18 cases detected in Munich.Arteriosclerosis: An Official Journal of the American Heart Association, Inc., 1990
- Hyperlipidemia in Coronary Heart Disease II. GENETIC ANALYSIS OF LIPID LEVELS IN 176 FAMILIES AND DELINEATION OF A NEW INHERITED DISORDER, COMBINED HYPERLIPIDEMIAJournal of Clinical Investigation, 1973