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

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About: Simplified PCR analysis of mutation in the NHEJ1 gene causing Collie eye anomaly in some dog breeds Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
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). 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). (en)
Title	Simplified PCR analysis of mutation in the NHEJ1 gene causing Collie eye anomaly in some dog breeds Simplified PCR analysis of mutation in the NHEJ1 gene causing Collie eye anomaly in some dog breeds (en)
skos:prefLabel	Simplified PCR analysis of mutation in the NHEJ1 gene causing Collie eye anomaly in some dog breeds Simplified PCR analysis of mutation in the NHEJ1 gene causing Collie eye anomaly in some dog breeds (en)
skos:notation	RIV/67985904:_____/10:00347460!RIV11-AV0-67985904
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(1QS500450578), Z(AV0Z50450515)
http://linked.open...iv/cisloPeriodika	8
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Hrdlicová, Anna Dostál, Jaromír Horák, Pavel Stratil, Antonín
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Ústav živočišné fyziologie a genetiky AV ČR, v. v. i.
http://linked.open...dnocenehoVysledku	287357
http://linked.open...ai/riv/idVysledku	RIV/67985904:_____/10:00347460
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	CEA; polymorphism; indel (en)
http://linked.open.../riv/klicoveSlovo	CEA polymorphism indel
http://linked.open...odStatuVydavatele	CZ - Česká republika
http://linked.open...ontrolniKodProRIV	[980E507F3478]
http://linked.open...i/riv/nazevZdroje	Czech Journal of Animal Science
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	4 (xsd:int)
http://linked.open...cetTvurcuVysledku	4 (xsd:int)
http://linked.open...vavai/riv/projekt	Population and molecular-genetic studies of progressive retinal atrophies (PRA) in dog breeds bred in Czech Republic - methods of their detection
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	55
http://linked.open...iv/tvurceVysledku	Horák, Pavel Dostál, Jaromír Hrdlicová, Anna Stratil, Antonín
http://linked.open...ain/vavai/riv/wos	000281109000006
http://linked.open...n/vavai/riv/zamer	Genetic, functional and developmental potential of animal cells, tissues and organisms: their use in medicine, ecology and agriculture
issn	1212-1819
number of pages	5 (xsd:int)
is http://linked.open...avai/riv/vysledek of	Simplified PCR analysis of mutation in the NHEJ1 gene causing Collie eye anomaly in some dog breeds Simplified PCR analysis of mutation in the NHEJ1 gene causing Collie eye anomaly in some dog breeds Simplified PCR analysis of mutation in the NHEJ1 gene causing Collie eye anomaly in some dog breeds

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