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.

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, follo

SUBMITTER: Lerdkrai C 

PROVIDER: S-EPMC8924400 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature