Compliance between clinical and genetic diagnosis of choroidal hypoplasia in 103 Norwegian Border Collie puppies
| Autor: | Siv Grosås, E. Ropstad, Kristin Wear Prestrud, Frode Lingaas |
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| Rok vydání: | 2017 |
| Předmět: |
Male
0301 basic medicine Heterozygote Pathology medicine.medical_specialty Pediatrics Genotyping Techniques 040301 veterinary sciences Buccal swab 0403 veterinary science 03 medical and health sciences Dogs Gene Frequency Puppy biology.animal medicine Animals Dog Diseases Allele Allele frequency Genetic testing Slit Lamp General Veterinary biology medicine.diagnostic_test Choroid business.industry Choroid Diseases 04 agricultural and veterinary sciences medicine.disease Hypoplasia DNA-Binding Proteins Collie eye anomaly 030104 developmental biology Mutation Border Collie Female business |
| Zdroj: | Veterinary Ophthalmology. 21:371-375 |
| ISSN: | 1463-5216 |
| DOI: | 10.1111/vop.12520 |
| Popis: | Objective To describe the frequency of the nonhomologous end-joining factor 1 (NHEJ1) mutation and the compliance between clinical and genetic diagnosis of choroidal hypoplasia (CH) in a group of Norwegian Border Collies. Animals studied Border collie puppies in the age from 5 to 8 weeks. Material and methods Puppies included in the study had a complete ophthalmological examination. All findings were recorded, and an ECVO scheme form was issued for each puppy. DNA samples were achieved from buccal swabs. Genetic typing was performed for the 7.8-kb deletion in the gene encoding NHEJ1. Dogs with none, one, or two copies of the mutated allele were classified as free, carriers, and affected, respectively. Results 103 Border Collie puppies from 16 litters, 52 females and 51 males, were included in the study. Ages ranged from 5.1 to 8.9 weeks. One puppy had clinical findings consistent with CH and optic nerve coloboma compatible with the diagnosis Collie Eye Anomaly (CEA). Findings on ophthalmological examination of the remaining puppies were within normal limits. On genetic testing, 85 puppies were clear of the mutation in the NHEJ1 gene, 17 puppies were carriers, and one puppy was genetically affected. Conclusions A good compliance between the clinical diagnosis and the genetic test results was found in all of the puppies examined. The allele frequency of the mutation was 6.3%. |
| Databáze: | OpenAIRE |
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