OLIGONUCLEOTIDE LIGATION ASSAY (OLA) FOR THE DIAGNOSIS OF FAMILIAL HYPERCHOLESTEROLEMIA

More than half of all deaths in Western society are related to arterio sclerotic cardiovascular diseases. Inherited disturbances in the low-d ensity-lipoprotein (LDL) receptor and similar lipid-related defects ac count for the majority of these deaths. Testing procedures thus far re ly on total cholesterol, LDL cholesterol, high-density-lipoprotein cho lesterol, 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 individu als by testing for 19 common mutations in the LDL receptor and the apo lipoprotein B genes using an automated genotyping-based two-step proto col, The novel OLA uses oligomeric pentaethyleneoxide mobility modifie rs. The automated test will be useful in screening large populations f or genetic data to distinguish relative from absolute risk, as well as for cost-effective familial analysis.