PCR Detection of an Eye Anomaly in a Family of Longhaired Collies

Abstract Inherited eye diseases have been the subject of genetic research for many years. This paper focuses on the optimisation of the DNA test based on the polymerase chain reaction (PCR) for the detection of Collie Eye Anomaly (CEA) in dogs. A small family of four longhaired Collies (parents and their daughters) with a confirmed positive clinical ophthalmologic examination of CEA served as the source of affected animals. Both PCR reaction conditions examined were suitable for detecting canine NHEJ1 gene mutation associated with CEA. One carrier was found in a small group of eleven randomly selected control healthy dogs. The PCR test confirmed the previous CEA-positive ophthalmological examination in Collies. The results indicated that all four family members of the examined longhaired Collies had a homozygous intronic deletion of 7799 bases in the canine NHEJ1 gene. The affected female Collies may potentially transmit this CEA-associated mutation to their puppies.