Wiik Anne Caroline, Ropstad Ernst-Otto, Bjerkås Ellen, Lingaas Frode
Department of Basic Sciences and Aquatic Medicine, Division of Genetics, Norwegian School of Veterinary Science, PO Box 8146 Dep, 0033 Oslo, Norway.
BMC Vet Res. 2008 Jul 1;4:23. doi: 10.1186/1746-6148-4-23.
A genetic study was performed to identify candidate genes associated with day blindness in the standard wire haired dachshund. Based on a literature review of diseases in dogs and human with phenotypes similar to day blindness, ten genes were selected and evaluated as potential candidate genes associated with day blindness in the breed.
Three of the genes, CNGB3, CNGA3 and GNAT2, involved in cone degeneration and seven genes and loci, ABCA4, RDH5, CORD8, CORD9, RPGRIP1, GUCY2D and CRX, reported to be involved in cone-rod dystrophies were studied. Polymorphic markers at each of the candidate loci were studied in a family with 36 informative offspring. The study revealed a high frequency of recombinations between the candidate marker alleles and the disease.
Since all of the markers were at the exact position of the candidate loci, and several recombinations were detected for each of the loci, all ten genes were excluded as causal for this canine, early onset cone-rod dystrophy. The described markers may, however, be useful to screen other canine resource families segregating eye diseases for association to the ten genes.
进行了一项基因研究，以确定与标准刚毛腊肠犬日盲相关的候选基因。基于对具有与日盲相似表型的犬类和人类疾病的文献综述，选择了10个基因并将其评估为与该品种日盲相关的潜在候选基因。
研究了参与视锥细胞退化的3个基因CNGB3、CNGA3和GNAT2，以及据报道参与视锥-视杆营养不良的7个基因和位点ABCA4、RDH5、CORD8、CORD9、RPGRIP1、GUCY2D和CRX。在一个有36个信息丰富后代的家系中研究了每个候选位点的多态性标记。该研究揭示了候选标记等位基因与疾病之间的高重组频率。
由于所有标记都位于候选位点的精确位置，并且每个位点都检测到了几次重组，因此排除了所有10个基因作为这种犬类早发性视锥-视杆营养不良的病因。然而，所描述的标记可能有助于筛选其他患有眼部疾病的犬类资源家系，以确定它们与这10个基因的关联。
