INHERITED RETINAL DISEASES AT THE CANINE RP3 LOCUS: LINKAGE, MARKER- AND MUTATION-BASED TESTS

摘要

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.