C - Chemistry – Metallurgy – 12 – Q
Patent
C - Chemistry, Metallurgy
12
Q
C12Q 1/68 (2006.01) C07K 14/47 (2006.01)
Patent
CA 2345923
The present invention relates to the surprising discovery that in an autosomally inherited disease, a homozygote mutant is found to be phenotypically normal and to the uses of such a discovery. The present invention further relates to easy and efficient means to detect mutations in the TIGR/MYOC gene. Further, the present invention relates to methods to diagnose and treat glaucoma or other diseases or conditions in which homoallelic complementation is observed.
L'invention concerne la découverte inattendue qui permet d'établir que dans une maladie autosomiquement héritée, un mutant homozygote est phénotypiquement normal et les utilisations d'une telle découverte. L'invention concerne aussi des moyens faciles et efficaces permettant de déceler des mutations dans le gène TIGR/MYOC. En outre, l'invention concerne les procédés permettant de diagnostiquer et de traiter le glaucome ou d'autres maladies ou affections dans lesquelles on observe une complémentation homoallélique.
Anctil Jean-Louis
Cote Gilles
Falardeau Pierre
Morissette Jean
Raymond Vincent
Anctil Jean-Louis
Cote Gilles
Falardeau Pierre
Goudreau Gage Dubuc
Morissette Jean
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