Simplified PCR analysis of mutation in the NHEJ1 gene causing Collie eye anomaly in some dog breeds

0347460 - ÚŽFG 2011 RIV CZ eng J - Journal Article
Dostál, Jaromír - Horák, Pavel - Hrdlicová, Anna - Stratil, Antonín
Simplified PCR analysis of mutation in the NHEJ1 gene causing Collie eye anomaly in some dog breeds.
Czech Journal of Animal Science. Roč. 55, č. 8 (2010), s. 346-350. ISSN 1212-1819. E-ISSN 1805-9309
R&D Projects: GA AV ČR 1QS500450578
Institutional research plan: CEZ:AV0Z50450515
Keywords : CEA * polymorphism * indel
Subject RIV: EB - Genetics ; Molecular Biology
Impact factor: 1.190, year: 2010

Collie eye anomaly (CEA) is an inherited eye disease affecting development of the choroids and sclera segregating in several, mostly herding breeds of dog. Phenotypic development of the disease varies greatly in the affected animals. Genetic control of its clinical variation is unknown so far. Affected dogs share a 7.8 kb deletion in intron 4 of the NHEJ1 gene.We report here population studies of 379 dogs (Australian Shepherd, Border Collie, Rough Collie, Smooth Collie, Shetland Sheep Dog, and Nova Scotia Duck Tolling Retriever) from breeders in the Czech Republic. A simple PCR method using a PikoTM Thermal Cycler and unclotted blood samples was employed for the analysis of the NHEJ1 gene. No isolation of DNA from blood samples before PCR was needed. The method is time-saving and gives excellent results. Frequencies of the disease allele in each breed were calculated (0.045, 0.194, 0.797, 0.367, 0.429 and 0.244, respectively).
Permanent Link: http://hdl.handle.net/11104/0188232