Simplified PCR analysis of a mutation in the NHEJ1 gene causing Collie eye anomaly in some dog breeds
| Autor: | Pavel Horak, J. Dostál, Antonín Stratil, A. Hrdlicova |
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| Předmět: |
0301 basic medicine
Genetics education.field_of_study 040301 veterinary sciences Population Smooth Collie 04 agricultural and veterinary sciences Biology Breed 0403 veterinary science Collie eye anomaly 03 medical and health sciences 030104 developmental biology Border Collie Rough Collie Animal Science and Zoology Allele education Allele frequency |
| Zdroj: | Scopus-Elsevier |
| Popis: | 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 Piko TM 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). An improvement of genetic health of the breeds on the basis of allele frequencies is discussed. |
| Databáze: | OpenAIRE |
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