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Statements

Subject Item
n2:RIV%2F67985904%3A_____%2F10%3A00347460%21RIV11-AV0-67985904
rdf:type
n8:Vysledek skos:Concept
dcterms: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).
dcterms: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
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
skos:notation
RIV/67985904:_____/10:00347460!RIV11-AV0-67985904
n3:aktivita
n7:P n7:Z
n3:aktivity
P(1QS500450578), Z(AV0Z50450515)
n3:cisloPeriodika
8
n3:dodaniDat
n11:2011
n3:domaciTvurceVysledku
n4:5037549 n4:4050584 n4:3748030 n4:9635343
n3:druhVysledku
n18:J
n3:duvernostUdaju
n10:S
n3:entitaPredkladatele
n12:predkladatel
n3:idSjednocenehoVysledku
287357
n3:idVysledku
RIV/67985904:_____/10:00347460
n3:jazykVysledku
n15:eng
n3:klicovaSlova
CEA; polymorphism; indel
n3:klicoveSlovo
n5:polymorphism n5:CEA n5:indel
n3:kodStatuVydavatele
CZ - Česká republika
n3:kontrolniKodProRIV
[980E507F3478]
n3:nazevZdroje
Czech Journal of Animal Science
n3:obor
n14:EB
n3:pocetDomacichTvurcuVysledku
4
n3:pocetTvurcuVysledku
4
n3:projekt
n9:1QS500450578
n3:rokUplatneniVysledku
n11:2010
n3:svazekPeriodika
55
n3:tvurceVysledku
Horák, Pavel Hrdlicová, Anna Dostál, Jaromír Stratil, Antonín
n3:wos
000281109000006
n3:zamer
n16:AV0Z50450515
s:issn
1212-1819
s:numberOfPages
5