C - Chemistry – Metallurgy – 07 – K
Patent
C - Chemistry, Metallurgy
07
K
C07K 14/47 (2006.01) C07H 21/00 (2006.01) C07K 16/18 (2006.01) C07K 17/00 (2006.01) C12N 15/12 (2006.01) C12Q 1/00 (2006.01) C12Q 1/68 (2006.01) G01N 33/48 (2006.01) G01N 33/543 (2006.01)
Patent
CA 2735129
The invention identifies Syngap1 dysfunctions as causative of mental retardation. Described are methods of detecting mental retarda-tion and methods of detecting non- syndromic mental retardation (NSMR) in a human subject. Particular methods comprise sequencing a human sub-ject's genomic DNA for comparison with a control sequence from an unaf-fected individual. Also described are probes, kits, antibodies and isolated mutated Syngap1 proteins.
La présente invention permet didentifier les dysfonctionnements de Syngap1 comme la cause de la déficience intellectuelle. Linvention concerne des procédés permettant de détecter une déficience intellectuelle et des procédés permettant de détecter une déficience intellectuelle non syndromique (NSM) chez un patient humain. Linvention concerne en particulier des procédés consistant à séquencer lADN génomique du patient humain et à le comparer avec une séquence témoin issue dun individu non affecté. Linvention concerne des sondes, des kits, des anticorps et des protéines Syngap1 mutées isolées.
Gauthier Julie
Hamdan Fadi
Michaud Jacques
Rouleau Guy
Centre Hospitalier de L'universite de Montreal
Centre Hospitalier Universitaire Sainte-Justine
Fasken Martineau Dumoulin Llp
Universite de Montreal
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