C - Chemistry – Metallurgy – 07 – K
Patent
C - Chemistry, Metallurgy
07
K
C07K 14/47 (2006.01) C07K 16/18 (2006.01) C12N 15/12 (2006.01) C12Q 1/68 (2006.01) G01N 33/53 (2006.01) G01N 33/68 (2006.01)
Patent
CA 2700011
The present invention provides a method of screening a subject for mutations in the CC2D2A gene that are associated with Joubert syndrome, an autosomal recessive form of mental retardation. The present invention also provides proteins that are associated with Joubert syndrome including proteins comprising an amino acid sequence that terminates in DHEGGSGMES (SEQ ID NO: 1). Also provided are nucleotide sequences encoding such proteins and methods of screening subjects to identify nucleotide sequences or proteins associated with Joubert syndrome.
L'invention concerne un procédé d'examen d'un sujet en vue de rechercher des mutations du gène CC2D2A qui sont associées au syndrome de Joubert, une forme autosomique récessive de retard mental. L'invention concerne aussi des protéines qui sont associées au syndrome de Joubert, y compris des protéines incluant une séquence d'acides aminés qui se termine par DHEGGSGMES (SEQ ID NO: 1). L'invention concerne aussi des séquences nucléotidiques qui codent pour ces protéines, et des procédés d'examen de sujets en vue d'identifier des séquences nucléotidiques ou des protéines associées au syndrome de Joubert.
Ayub Muhammad
Vincent John B.
Centre For Addiction And Mental Health
Gowling Lafleur Henderson Llp
LandOfFree
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