DNA diagnosis of familial hypercholesterolemia.

More than half of all deaths in western societies are related to arteriosclerotic cardiovascular diseases. Inherited disturbances in the low-density-lipoprotein (LDL) receptor and similar lipid-related defects account for more than half. Testing procedures thus far rely on lipoprotein determinations. These tests are not able to provide any genetic inference. We have developed an oligonucleotide ligation assay (OLA) which enables us to screen for high risk individuals by testing for common mutations in using automated genotyping equipment. Since the test is robust, reliable, objective, fool proof, and automated, it will be useful in screening large population to gather genetic epidemiological data, distinguish relative from absolute risk, as well as for cost effective case finding in family studies.