EVALUATION OF ROM1 AS A CANDIDATE GENE IN GENERALIZED PROGRESSIVE RETINAL ATROPHY IN DOGS

Generalised progressive retinal atrophy (gPRA) is a heterogeneous grou p of hereditary diseases causing degeneration of the retina in dogs an d other animals. The genetic origin is unknown in most cases. We have screened the coding sequence of the ROM1 gene for disease causing muta tions in Tibetan Terriers, Miniature Poodles, Dachshunds and Chesapeak e Bay Retrievers by single strand conformation polymorphism analysis ( SSCP). Two polymorphisms have been identified by sequencing, one in ex on 1 in all examined breeds (position 210: G-->A; Gly40Arg and positio n 252: G-->T; Ala53-Ser). Another polymorphism was present in exon 2 ( position 1150: C-->T and position 1195: C-->T) segregating in Miniatur e Poodles. None of these polymorphisms were cosegregating with gPRA. r endering a disease causing mutation in the ROM1 gene unlikely.