Simplified PCR analysis of a mutation in the NHEJ1 gene causing collie eye anomaly in some dog breeds
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. Affec...
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| Format: | Article |
| Language: | English |
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Czech Academy of Agricultural Sciences
2010-08-01
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| Series: | Czech Journal of Animal Science |
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| Online Access: | https://cjas.agriculturejournals.cz/artkey/cjs-201008-0006_simplified-pcr-analysis-of-a-mutation-in-the-nhej1-gene-causing-collie-eye-anomaly-in-some-dog-breeds.php |
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| author | J. Dostál P. Horák A. Hrdlicová A. Stratil |
| author_facet | J. Dostál P. Horák A. Hrdlicová A. Stratil |
| author_sort | J. Dostál |
| collection | DOAJ |
| description | 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). An improvement of genetic health of the breeds on the basis of allele frequencies is discussed. |
| first_indexed | 2024-04-10T08:27:50Z |
| format | Article |
| id | doaj.art-f28f52635f1a4b67af3048906f7b5b01 |
| institution | Directory Open Access Journal |
| issn | 1212-1819 1805-9309 |
| language | English |
| last_indexed | 2024-04-10T08:27:50Z |
| publishDate | 2010-08-01 |
| publisher | Czech Academy of Agricultural Sciences |
| record_format | Article |
| series | Czech Journal of Animal Science |
| spelling | doaj.art-f28f52635f1a4b67af3048906f7b5b012023-02-23T03:32:48ZengCzech Academy of Agricultural SciencesCzech Journal of Animal Science1212-18191805-93092010-08-0155834635010.17221/259/2009-CJAScjs-201008-0006Simplified PCR analysis of a mutation in the NHEJ1 gene causing collie eye anomaly in some dog breedsJ. Dostál0P. Horák1A. Hrdlicová2A. Stratil3Institute of Animal Physiology and Genetics, Academy of Sciences of the Czech Republic, Liběchov, Czech RepublicInstitute of Animal Physiology and Genetics, Academy of Sciences of the Czech Republic, Liběchov, Czech RepublicInstitute of Animal Physiology and Genetics, Academy of Sciences of the Czech Republic, Liběchov, Czech RepublicInstitute of Animal Physiology and Genetics, Academy of Sciences of the Czech Republic, Liběchov, Czech RepublicCollie 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). An improvement of genetic health of the breeds on the basis of allele frequencies is discussed.https://cjas.agriculturejournals.cz/artkey/cjs-201008-0006_simplified-pcr-analysis-of-a-mutation-in-the-nhej1-gene-causing-collie-eye-anomaly-in-some-dog-breeds.phpceapolymorphismindelpikotm thermal cyclerallele frequencies |
| spellingShingle | J. Dostál P. Horák A. Hrdlicová A. Stratil Simplified PCR analysis of a mutation in the NHEJ1 gene causing collie eye anomaly in some dog breeds Czech Journal of Animal Science cea polymorphism indel pikotm thermal cycler allele frequencies |
| title | Simplified PCR analysis of a mutation in the NHEJ1 gene causing collie eye anomaly in some dog breeds |
| title_full | Simplified PCR analysis of a mutation in the NHEJ1 gene causing collie eye anomaly in some dog breeds |
| title_fullStr | Simplified PCR analysis of a mutation in the NHEJ1 gene causing collie eye anomaly in some dog breeds |
| title_full_unstemmed | Simplified PCR analysis of a mutation in the NHEJ1 gene causing collie eye anomaly in some dog breeds |
| title_short | Simplified PCR analysis of a mutation in the NHEJ1 gene causing collie eye anomaly in some dog breeds |
| title_sort | simplified pcr analysis of a mutation in the nhej1 gene causing collie eye anomaly in some dog breeds |
| topic | cea polymorphism indel pikotm thermal cycler allele frequencies |
| url | https://cjas.agriculturejournals.cz/artkey/cjs-201008-0006_simplified-pcr-analysis-of-a-mutation-in-the-nhej1-gene-causing-collie-eye-anomaly-in-some-dog-breeds.php |
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