Počet záznamů: 1

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

  1. 1.
    0347460 - UZFG-Y 2011 RIV CZ eng J - Článek v odborném periodiku
    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
    Grant CEP: GA AV ČR 1QS500450578
    Výzkumný záměr: CEZ:AV0Z50450515
    Klíčová slova: CEA * polymorphism * indel
    Kód oboru RIV: EB - Genetika a molekulární biologie
    Impakt faktor: 1.190, rok: 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).
    Trvalý link: http://hdl.handle.net/11104/0188232