Abstract
Background and Aim:Collie eye anomaly (CEA) is a hereditary and congenital ocular disorder, which affects several dog breeds, including Collies, Collie-related breeds, and other purebreds. An intronic deletion of 7799-bp in the non-homologous end-joining factor 1 (NHEJ1) gene has been identified as the genetic defect causing CEA. This study aimed to investigate the prevalence of CEA based on NHEJ1 genotyping assay in Thailand.Materials and Methods:We clarified the prevalence of CEA in 224 dogs from five purebred dog breeds using a novel multiplex polymerase chain reaction (PCR)-based technique and confirmed the genotypic status with direct DNA sequencing.Results:The highest frequency of the mutated NHEJ1 allele was 83.3% for Rough Collies, followed by 7.8% for Border Collies, 5.1% for Australian Shepherds, and 2.8% for Shetland Sheepdogs. The heterozygous mutated NHEJ1 genotype detected for Rough Collies, Border Collies, Australian Shepherds, and Shetland Sheepdogs was 33.3%, 15.6%, 10.3%, and 3.3%, respectively. The homozygous mutated NHEJ1 genotype was detected only in Rough Collies and Shetland Sheepdogs, accounting for 66.7% and 1.1%, respectively. Thai Ridgeback Dogs were not affected by this mutation.Conclusion:This study describes, for the 1st time, the genotypic survey of the NHEJ1 gene associated with CEA in dogs in Thailand. In addition, we successfully developed a new multiplex PCR assay with high accuracy, reproducibility, and cost-efficiency and validated its usefulness for determining NHEJ1 genotypes.
Highlights
Collie eye anomaly (CEA) is a canine hereditary ocular disease that involves the poor development of choroid and sclera, with varying manifestations
This study describes, for the 1st time, the genotypic survey of the nonhomologous end-joining factor 1 (NHEJ1) gene associated with CEA in dogs in Thailand
We successfully developed a new multiplex polymerase chain reaction (PCR) assay with high accuracy, reproducibility, and costefficiency and validated its usefulness for determining NHEJ1 genotypes
Summary
Collie eye anomaly (CEA) is a canine hereditary ocular disease that involves the poor development of choroid and sclera, with varying manifestations. CEA is a congenital non-progressive disorder with asymmetrical bilateral lesions [1,2]. Choroidal hypoplasia in the temporal region to the optic disk is a typical clinical feature of CEA. This defect occurs due to improper closing of optic fissures during eye development and appears as a gray or pink pit of the optic disk surface or the adjacent area to the disk [2,4]. Collie eye anomaly (CEA) is a hereditary and congenital ocular disorder, which affects several dog breeds, including Collies, Collie-related breeds, and other purebreds. This study aimed to investigate the prevalence of CEA based on NHEJ1 genotyping assay in Thailand
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