Hereditary ocular disorders in Australian Shepherd dogs

Firdova, Zuzana; Turnova, Evelina; Bielikova, Marcela; Dudáš, Andrej; Turña, Ján

doi:10.1016/j.jbiotec.2016.05.310

Cited by 1 publication

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“…Similar findings were reported from Belgium [25] and the Czech Republic [13], where the mutation frequencies were 3.1% and 4.5%, respectively. However, a slightly higher mutation frequency of 11% has been observed in a large-scale study in Australian Shepherds originating from Europe and the USA [27]. Among Australian Shepherds with the NHEJ1 mutation, the CEA/cea genotype predominated in all mutated individuals, whereas the cea/cea genotype was unidentified across previous studies and in this investigation.…”

Section: Discussionsupporting

confidence: 40%

A novel multiplex polymerase chain reaction assay for the genotypic survey of the non-homologous end-joining factor 1 gene associated with Collie eye anomaly in Thailand

Lerdkrai

Phungphosop

2022

Vet World

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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.

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Section: Discussionsupporting

confidence: 40%