POLYMORPHIC SEQUENCES OF THE HUMAN ABCA1 GENE, THEIR USES, DETECTION METHODS AND KITS

摘要

The invention concerns isolated nucleic acids coding for the ABCA1 carrier protein and comprising sequence polymorphic variations, and polypeptides derived from the human ABCA1 carrier and containing polymorphic amino acids. The invention also concerns allele-specific primers and probes hybridising to regions flanking or containing said polymorphic sites or positions, methods and kits or sets for analysing the allelism variations affecting the ABCA1 gene and finally the use of polymorphisms of the human ABCA1 gene for diagnosing a disease or a predisposition to a disease, in particular related to the concentration of plasmatic cholesterol High Density Lipoprotein (HDL), as for example is the case in familial HDL deficiencies such as Tangier disease, myocardial infarction, atherosclerosis, and other cardiovascular diseases.