Genetic test for equine severe combined immunodeficiency...

C - Chemistry – Metallurgy – 12 – N

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C12N 15/54 (2006.01) C07H 21/04 (2006.01) C07K 14/435 (2006.01) C12N 9/12 (2006.01) C12N 15/11 (2006.01) C12P 19/34 (2006.01) C12Q 1/68 (2006.01)

Patent

CA 2272850

The present invention relates to the discovery of the mutation of a DNA- dependent protein kinase protein which results in equine severe combined immunodeficiency (SCID). Specifically, the present invention provides the sequence of the normal and SCID DNA-dependent protein kinase genes, proteins, and provides diagnostic tests for identifying carriers of the mutation utilizing oligonucleotides that differentiate between the normal and the SCID alleles.

Cette invention concerne la découverte de la mutation d'une protéine de protéine kinase dépendant de l'ADN qui produit un déficit immunitaire combiné sévère (DICS) chez les équidés. De manière plus spécifique cette invention concerne la séquence de protéines, de gènes de protéine kinase dépendant de l'ADN normaux et DICS et des test de diagnostic qui permettent d'identifier des vecteurs de la mutation à l'aide d'oligonucléotides qui différencient les allèles normaux et DICS.

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