Expression products of genes involved in diseases related to...

C - Chemistry – Metallurgy – 12 – N

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C12N 15/12 (2006.01) C07K 14/47 (2006.01) C12Q 1/68 (2006.01)

Patent

CA 2371500

The invention concerns nucleic acids expressed from genes located in the human genome in the 9q31-34 region of chromosome 9, likely to be involved in diseases genetically related to said chromosomal locus, in particular diseases of the plasmatic lipoprotein metabolism, more particularly the reverse transport of cholesterol. The invention also concerns polypeptides encoded by certain nucleic acids and antibodies specifically directed against such polypeptides, useful as diagnostic reagents. The invention further concerns vectors and recombinant host cells comprising said nucleic acids or fragments thereof.

La présente invention concerne des acides nucléiques exprimés à partir de gènes localisés dans le génome humain dans la région 9q31-34 du chromosome 9, susceptibles d'être impliqués dans des maladies génétiquement liées à ce locus chromosomique, notamment les affections du métabolisme des lipoprotéines plasmatiques, plus particulièrement le transport inverse du cholestérol. L'invention concerne également des polypeptides codés par certains de ces acides nucléiques ainsi que des anticorps dirigés spécifiquement contre de tels polypeptides, utiles comme réactifs de diagnostic. L'invention est enfin relative à des vecteurs et des cellules hôtes recombinantes comprenant ces acides nucléiques ou des fragments de ceux-ci.

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