Polymorphic sequences of the human abca1 gene, their uses,...

Details Polymorphic sequences of the human abca1 gene, their uses,... Polymorphic sequences of the human abca1 gene, their uses,...

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) C12Q 1/68 (2006.01)

Patent

CA 2427436

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.

La présente invention a pour objet des acides nucléiques isolés codant pour la protéine transporteur ABCA1 et comportant des variations polymorphes de séquence, ainsi que des polypeptides dérivés du transporteur humain ABCA1 et contenant des acides aminés polymorphes.L'invention a également pour objet des amorces et des sondes spécifiques d'allèle qui s'hybrident à des régions flanquant ou contenant ces sites ou positions polymorphes, des procédés et des kits ou nécessaires permettant d'analyser les écarts d'allélisme affectant le gène ABCA1, et enfin l'utilisation des polymorphismes du gène humain ABCA1 pour le diagnostic, d'une maladie ou d'une prédisposition à une maladie, en particulier liée à la concentration de HDL (High Density Lipoprotein) cholestérol plasmatique, comme par exemple c'est le cas des déficiences familiales en HDL comme la maladie de Tangier, de l'infarctus du myocarde, de l'athérosclérose, et d'autres affections cardiovasculaires.

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