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Oligonucleotide ligation assay (OLA) for the diagnosis of familial hypercholesterolemia

Item Type:Article
Title:Oligonucleotide ligation assay (OLA) for the diagnosis of familial hypercholesterolemia
Creators Name:Baron, H. and Fung, S. and Aydin, A. and Baehring, S. and Luft, F.C. and Schuster, H.
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:Apolipoproteins B, Base Sequence, Biotechnology, DNA Mutational Analysis, DNA Primers, Genetic Techniques, Genetic Testing, Genotype, Hyperlipoproteinemia Type II, Mutation, Oligonucleotide Probes, Polymerase Chain Reaction, LDL Receptors
Source:Nature Biotechnology
ISSN:1087-0156
Publisher:Nature Publishing Group
Volume:14
Number:10
Page Range:1279-1282
Date:1 October 1996
Official Publication:https://doi.org/10.1038/nbt1096-1279
PubMed:View item in PubMed

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