| abstract |
The present invention relates to isolated nucleic acids encoding the transporter protein ABCA1 and comprising polymorphic variations of sequence, as well as polypeptides derived from the human transporter ABCA1 and containing polymorphic amino acids. The subject of the invention is also primers and allele specific probes that hybridize to regions flanking or containing these polymorphic sites or positions, methods and kits or kits to analyze the differences in allelism affecting the ABCA1 gene, and finally the use of polymorphisms of the human ABCA1 gene for the diagnosis of a disease or a predisposition to a disease, in particular linked to the concentration of HDL (High Density Lipoprotein) plasma cholesterol, such as impairments family diseases in HDL such as Tangier's disease, myocardial infarction, atherosclerosis, and other cardiovascular conditions. |