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publicationDate 2001-05-31-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber WO-0138578-A1
titleOfInvention Inherited retinal diseases at the canine rp3 locus: linkage, marker- and mutation-based tests
abstract The present invention relates to methods for idenfifying or selecting dogs which are genetically normal, are carriers of, or are affected with X-linked progressive retinal atrophy (XLPRA) by testing a biological sample with genetic markers which co-segregate with a XLPRA gene locus. The present invention also relates to methods for identifying or selecting dogs which are genetically normal, are carriers of, or are affected with LPRA by testing a biological sample for a gene encoding canine retinitis pigmentosa GTPase regulator (RPGR) having a nucleotide mutation in one or both alleles indicative of a carrier of or a dog affected with XLPRA. Other aspects of the present invention relate to isolated nucleic acid molecules encoding the ORF 15 of the canine RPGR in normal, XLPRA1-affected, and XLPRA2-affected dogs.
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