Peer-reviewed veterinary case report
Genetic region linked to progressive retinal atrophy in Schapendoes
By Lippmann, Tanja et al.·Published in Molecular vision·2007·Ruhr-University, Germany·View original on PubMed →
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Original publication title: Haplotype-defined linkage region for gPRA in Schapendoes dogs.
- Species:
- dog
Plain-English summary
A group of Schapendoes dogs with generalized progressive retinal atrophy (gPRA), a condition that leads to vision loss, was studied to find the genetic cause. Researchers looked at the dogs' family trees and performed DNA tests to identify a specific region on their chromosomes linked to the disease. While they found a promising area for further investigation, they did not discover the exact mutation causing gPRA. However, they developed a way to indirectly test for the condition in Schapendoes, which could help owners understand their dog's risk of developing this eye problem in the future.
People also search for: Schapendoes eye problems · dog progressive retinal atrophy test · gPRA in dogs
Abstract
PURPOSE: In order to determine the molecular basis of canine generalized progressive retinal atrophy (gPRA), we initiated whole-genome scanning for linkage in gPRA-informative pedigrees of the Schapendoes breed. METHODS: Detailed pedigree and ophthalmological data were assembled in selected Schapendoes pedigrees. A whole-genome scan was initiated by two-point linkage analysis using microsatellite markers in combination with haplotype analyses. Mutation screening was carried out in respective candidate genes by DNA sequencing of amplified products and quantitative real-time reverse transcriptase polymerase chain reaction (RT-PCR). RESULTS: Genotyping data of the microsatellite genome scan evidenced a peak two-point lod score of 4.78 for marker REN93E07 on CFA20. Haplotype analyses inferred the gPRA locus in a 5.6 megabase (Mb) region between markers FH3358 and TL336MS. Mutation screening in the genes CACNA2D3, HT017, and WNT5A revealed no causative sequence deviations. In addition, CACNA2D3 mRNA levels were equivalent in retinas of affected and healthy dogs. CONCLUSIONS: By genome-wide linkage analysis a region for gPRA was identified and fine-localized in Schapendoes dogs. Although the mutation causing gPRA in Schapendoes dogs has not yet been identified, we established indirect DNA testing for gPRA in this breed based on linkage analysis data.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/17327822/