rcd1-PRA (Progressive Retinal Atrophy) Test
For: Irish Setters and Irish Red & White Setters
Please note cheek swabs are not accepted for this test.
Progressive Retinal Atrophy, an irreversible, inherited blinding disease, has several forms that affect many breeds of dogs. Irish Setters suffer from an "early onset" form known as rod-cone dysplasia 1, or rcd1. Pups begin showing signs of night-blindness by 6 weeks of age, and by 1-2 years of age most affected dogs are completely blind.
Although PRA can't be treated, it can be prevented. The OptiGen rcd1 test is a DNA-based test that provides a method to eliminate the rcd1 form of Progressive Retinal Atrophy from the Irish Setter.
The key to preventing autosomal recessive diseases lies in identifying dogs that do not carry the defective genes. The OptiGen rcd1 test unequivocally and reliably identifies normal dogs. Called "genetically clear," "noncarriers" or, more formally, "homozygous normals," such dogs can pass only the normal gene on to all their pups. This means that none of their pups can ever be affected with PRA.
These clear dogs can be bred to any mate, even to PRA-affected dogs that may be desirable breeding prospects for other reasons.
As a mutation-based test, this procedure also identifies carriers and affecteds with 100% accuracy. But while a clear dog may be bred to any other dog, carriers and affecteds must be bred only to clear dogs. Desirable breedings include at least one parent proven "normal" by the OptiGen rcd1 test as shown in the shaded areas of the second table. Breedings of untested dogs or dogs testing as carriers are at risk of producing PRA-affected pups.
Pups can be tested to distinguish normals, carriers, and affecteds as soon as they are old enough to have a small amount of blood collected for testing using the OptiGen rcd1 test.
| OptiGen mutation test results for inherited recessive diseases |
| N = |
Normal (Clear) |
Homozygous for normal gene, so will never develop the disease |
| C = |
Carrier |
Carries one disease gene, but will never develop the disease |
| A = |
Affected |
Homozygous for disease gene and will develop the disease |
| Homozygous means both copies of the gene in your dog are the SAME - both normal or both disease genes. Heterozygous means your dog has one normal and one disease gene, and is a carrier. |
| Expected results of breeding strategies using OptiGen mutation tests for inherited recessive diseases |
Parent 1
Genotype |
Parent 2 Genotype |
| Normal |
Carrier |
Affected |
| Normal |
All = Normal |
1/2 = Normal
1/2 = Carriers |
All = Carriers |
| Carrier |
1/2 = Normal
1/2 = Carriers |
1/4 = Normal
1/2 = Carriers
1/4 = Affected |
1/2 = Carriers
1/2 = Affected |
| Affected |
All = Carriers |
1/2 = Carriers
1/2 = Affected |
All = Affected |
| This table shows that all the desirable breedings (shaded boxes) include at least one parent that is Normal by the OptiGen rcd1 or CLAD test. All other breedings are at risk of producing pups affected with PRA or CLAD. It isn't necessary - or even desirable - to remove dogs from the breeding population. But when choosing pups to retain as potential breeding stock, it is important to select for normal dogs - and select against affected dogs. |
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