Genotypic and allelic frequency of a mutation in the NHEJ1 gene associated with collie eye anomaly in dogs in Italy.
Vet Rec Open
; 9(1): e26, 2022 Dec.
Article
em En
| MEDLINE
| ID: mdl-35127102
ABSTRACT
BACKGROUND:
A 7.8-kb deletion in intron 4 of the NHEJ1 canine gene is associated with Collie Eye Anomaly (CEA). This deletion has been described in sheep-herding breeds related to the collie lineage and in several other dog breeds. A genetic test based on this association can distinguish three genotypes normal, carrier and affected. The present study is a retrospective investigation of the presence of the CEA allele frequencies in selected breeds from the Italian dog population over a 10-year time span.METHODS:
Genotype data, for the 7.8 kb deletion in intron 4 of the NHEJ1 gene, from 496 dogs belonging to Border collie (BC, n = 334), Shetland Sheepdog (SS, n = 74), Australian Shepherd (AS, n = 52), Nova Scotia Duck Tolling Retriever (NS, n = 20) and Rough Collie (RC, n = 16) were analysed. The genetic frequency of CEA allele was estimated in breeds with higher observations (BC, SS and AS).RESULTS:
Healthy carriers were 50%, 45%, 29.6%, 17.3% and 12.5% in SS, NS, BC, AS and RC, respectively. The affected recessive homozygotes were 81.3%, 10.8% and 1.5% in RC, SS and BC, respectively. The CEA allelic frequencies were 0.36, 0.16 and 0.087 in SS, BC and AS, respectively.CONCLUSION:
The results support the usefulness of this type of genetic analysis to optimize the care of dogs where the CEA mutation is present, including assessing the health risk to susceptible dogs within a breed and to provide an objective basis for breeding programmes.
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Base de dados:
MEDLINE
Tipo de estudo:
Risk_factors_studies
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article