Identification of neural defects associated with the...

Details Identification of neural defects associated with the... Identification of neural defects associated with the...

C - Chemistry, Metallurgy

12

Q

C12Q 1/68 (2006.01)

Patent

CA 2408010

A method for screening neural system defects in a human comprises: (A) providing chromosomal material from the human; (B) detecting a modification of the NAP1L2 gene in the chromosomal material, wherein the modification is selected from a) substitution, b) dele-tion, c) frame-shift, or d) insertion that causes a loss of biological function in the NAP1L2 gene; and (C) correlating the modification of the gene with a potential for a neural system defect. The method can also be practiced with the mouseNap1L2 gene.

L'invention concerne un procédé de recherche de défauts du système neuronal chez un humain, qui consiste à : (A) prévoir du matériel chromosomique de l'humain concerné; (B) détecter une modification du gène <I>NAP1L2</I> dans le matériel chromosomique, la modification étant choisie parmi a) une substitution, b) une délétion, c) un décalage du cadre, ou d) une insertion induisant une perte de fonction biologique dans le gène <I>NAP1L2</I> ; et c) corréler la modification du gène avec une possibilité de défaut du système neuronal. Ledit procédé peut également être utilisé avec le gène Nap1L2 de souris.

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