<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>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 <italic>NHEJ1</italic> 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 <italic>NHEJ1</italic> gene. The affected female Collies may potentially transmit this CEA-associated mutation to their puppies.</p>
</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.

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

University Veterinary Hospital, Small Animal Clinic University of Veterinary Medicine and Pharmacy in Košice

Folia Veterinaria

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

{"article-title":"PCR Detection of an Eye Anomaly in a Family of Longhaired Collies"}

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...

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

Published Online: Dec 30, 2022

Page range: 75 - 81

Received: Oct 10, 2022

Accepted: Nov 21, 2022

DOI: https://doi.org/10.2478/fv-2022-0040

Keywords
Collie eye anomaly, dogs, hereditary eye diseases, PCR

© 2022 Holečková B. et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

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

Published Online: Dec 30, 2022

Page range: 75 - 81

Received: Oct 10, 2022

Accepted: Nov 21, 2022

DOI: https://doi.org/10.2478/fv-2022-0040

KeywordsCollie eye anomaly, dogs, hereditary eye diseases, PCR

© 2022 Holečková B. et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Keywords
Collie eye anomaly, dogs, hereditary eye diseases, PCR