Description: Progressive retinal atrophy (PRA) is a category of genetic mutations, which can cause blindness. It is the canine equivalent of Retinitis pigmentosa (RP) in humans and is characterized by loss of vision due to degeneration of the photoreceptor cells of the retina. Various forms of PRA have been identified in more than 100 dog breeds which were caused by numerous mutation types. In Golden retriever breed there are 3 common variants of PRA. First of them is PRA-prcd, but only a small number of PRA-affected Golden retrievers have been found to be homozygous for this mutation. Other variants are GR-PRA1 and GR-PRA2. GR-PRA1 has an autosomal recessive type of inheritance. It is a result of a mutation (c.2601_2602insC) in gene SLC4A3, it causes a shift in the reading frame, formation of non-functional protein. In 56% of cases, this variant is a cause of the PRA disease in this breed.
Inheritance: autosomal recessive
Mutation: c.2601_2602insC in gene SLC4A3
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes. For official purposes, the confirmation of the dog’s identity by Veterinarian is recommended.
The analysis is suitable for the following breeds: Golden retriever
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