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Rod Cone Dysplasia type 1a      rcd1a-PRA Test   Code 312

For breeds: Sloughi

 Cases of Progressive Retinal Atrophy (PRA) in Sloughis have been documented repeatedly. One specific form of PRA in Sloughi dogs, the rod cone dysplasia type 1 (rcd1a-PRA) has late onset with first noticeable signs of vision loss usually evident at 2 to 3 years of age. The mutation associated with the rcd1a-PRA disease has been identified in the PDE6B gene (1).The inheritance pattern of this disease is autosomal recessive, meaning a dog is affected when it inherits two copies of the mutation, one from each parent. 

Although PRA can't be treated, it can be prevented. The key to preventing autosomal recessive diseases lies in identifying dogs that do not carry the defective genes. The mutation based rcd1a-PRA  test unequivocally and reliably identifies normal dogs. Called genetically clear/normal, 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 this form of PRA. These clear dogs can be bred to any mate, even to PRA-affected dogs that may be desirable breeding prospects for other reasons.

The test also identifies carriers and affected dogs with 100% accuracy. But while a normal dog may be bred to any other dog, carriers and affecteds must be bred only to normal dogs. Desirable breedings include at least one parent proven "normal" by the DNA-based rcd1-PRA test, as shown in the shaded areas of the following table. Breeding untested dogs or breeding two carrier dogs puts you at risk of producing PRA-affected pups.

Expected results of breeding strategies using OptiGen mutation tests for inherited recessive diseases
Parent 1
Genotype
Parent 2     Genotype
NormalCarrierAffected
NormalAll = Normal1/2 = Normal
1/2 = Carriers
All = Carriers
Carrier1/2 = Normal
1/2 = Carriers
1/4 = Normal
1/2 = Carriers
1/4 = Affected
1/2 = Carriers
1/2 = Affected
AffectedAll = Carriers1/2 = 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 DNA testing for PRA. All other breedings are at risk of producing pups affected with PRA. 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.

Go to this web site’s link to "Ship Sample" for full instructions. Select the link to "Request Test" for the submission form.

OptiGen offers the Sloughi PRA test through cooperation with Dr. Epplen and the scientific team who discovered this genetic defect in Sloughis at the Department of Molecular Human Genetics, Ruhr University, Bochum, Germany.

PCR technology is performed under a license agreement with Roche Molecular Systems, Inc.

Reference: 

1. Dekomien G. Runte M. et al. Generalized progressive retinal atrophy of Sloughi dogs is due to an 8-bp insertion in exon 21 of the PDF6B gene. 2000. Cytogenet Cell Genet 90:261-267.

Learn more about this disease at: http://sloughi.tripod.com/sloughisonline/PRA.html.

 

 

 

 

 

 


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OptiGen®, LLC · Cornell Business & Technology Park · 767 Warren Road, Suite 300 · Ithaca, New York 14850
Tel: 607 257 0301 · Fax: 607 257 0353 · email: genetest@optigen.com or optigen@clarityconnect.com
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