Diagnosis of cone-rod dystrophy

摘要

A method of diagnosing or detecting cone-rod dystrophy (CRD) in a mammal, particularly in a canine species, comprises the detection of a deletion in exon 5 of the NPHP4 (nephrocystin-4 or nephroretinin) gene. The deletion results in a truncated protein unable to bind RPGRIP1, but still comprising the NPHP1-binding site. The method may comprise detection of the deletion in genomic DNA, RNA or cDNA derived from it, detection of linked microsatellites or polymorphisms, or detection of a truncated NPHP4 protein. The invention also provides primers, nucleic acid molecules, polypeptides, antibodies, and kits for use in such methods. The diagnostic methods may be used for breeding programmes, to produce animals homozygous for the wild-type allele of NPHP4. Transgenic animals expressing a heterologous wild-type gene are also provided.