Genes and polymorphisms associated with amd

C - Chemistry – Metallurgy – 12 – Q

Patent

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Details

C12Q 1/68 (2006.01) C40B 30/04 (2006.01) C40B 40/06 (2006.01) G01N 33/68 (2006.01) C07H 21/00 (2006.01)

Patent

CA 2704787

The invention relates to genes, gene polymorphisms, and genetic profiles associated with an elevated or a reduced risk of alternative complement cascade deregulation disease such as AMD. The invention provides methods and reagents for determination of risk, diagnosis and treatment of such diseases. In an embodiment, the present invention provides methods and reagents for determining sequence variants in the genome of a patient which facilitate assessment of risk for developing such diseases.

L'invention concerne des gènes, des polymorphismes de gène et des profils génétiques associés à un risque élevé ou réduit d'une maladie de dérèglement en cascade de complément alternative telle que l'AMD (dégénérescence maculaire liée à l'âge). L'invention propose des procédés et des réactifs pour déterminer le risque, le diagnostic et le traitement de telles maladies. Dans un mode de réalisation, la présente invention propose des procédés et des réactifs pour déterminer des variantes de séquence dans le génome d'un patient qui facilitent l'estimation d'un risque de développer de telles maladies.

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