Rca locus analysis to assess susceptibility to amd and mpgnii

C - Chemistry – Metallurgy – 07 – H

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

Patent

CA 2704809

The invention relates to gene polymorphisms and genetic profiles associated with an elevated or a reduced risk of alternative complement cascade deregulation disease such as AMD and/or MPGNII. 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 individual which facilitate assessment of risk for developing such diseases.

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) et/ou le MPGNII. 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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