Predicting amd with snps within or near c2, factor b,...

C - Chemistry – Metallurgy – 40 – B

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C40B 40/06 (2006.01) G06Q 50/22 (2012.01) C12Q 1/68 (2006.01) C40B 30/04 (2006.01) A61K 45/00 (2006.01) C07H 21/00 (2006.01)

Patent

CA 2704447

Gene polymorphisms and genetic profiles associated with an elevated or a reduced risk of a complement cascade dysregulation disease such as AMD are disclosed. Methods and reagents for determination of risk, diagnosis and treatment of such diseases are provided, as well as methods and reagents for determining sequence variants in the genome of an individual which facilitate assessment of risk for developing such diseases are provided.

L'invention concerne des polymorphismes de gène et des profils génétiques associés à un risque élevé ou réduit d'une maladie de dérèglement en cascade de complément 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 individu qui facilitent l'estimation d'un risque de développer de telles maladies.

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