Genetic test for equine severe combined immunodeficiency disease

Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid

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435 912, 435194, 530350, 536 232, 536 235, C12Q 168, C12P 1934, C07H 2104

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059768037

ABSTRACT:
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.

REFERENCES:
patent: 5476996 (1995-12-01), Wilson et al.
Wiler et al., Proc. Natl. Acad. Sci. USA 92, 11485-11489 (1995).
Wiler et al., Vet. Immunol. Immunopath. 54, 19 (1996).
Shin et al., J. Immunol. 158(8), 3565-3569 (1997).
Shin et al., J. Am. Vet. Med. Assoc. 211(10), 1268-1270 (1997).

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