LABOKLIN (UK)| Genetic Diseases | Dogs| Progressive Retinal Atrophy (cord1- PRA / crd4 PRA)
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Progressive Retinal Atrophy (cord1- PRA / crd4 PRA)

Test number: 8128 (this test number replaces the old 8099DGC)
Gene: PRA
Price: £ 48.00 (including VAT)
Breeds
Beagle , Bolonka Zwetna (Tsvetnaya Bolonki) , Clumber Spaniel , Curly Coated Retriever , Dachshund , English Cocker Spaniel , English Springer Spaniel , French Bull Dog , Miniature Wire haired Dachshund , Miniature Long Haired Dachshund , Miniature Smooth Haired Dachshund .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in English Springer Spaniel, Miniature Wire haired Dachshund, Miniature Long Haired Dachshund, and Miniature Smooth Haired Dachshund.

for UK registered dogs, Laboklin can send results of the tests which are part of the Official UK Kennel Club DNA testing scheme to the Kennel Club (KC) to be recorded and published as part of the Kennel Club scheme. Results will only be recorded and published by the KC if the result report includes the dog’s microchip or tattoo number along with either the dog’s registered name or registered number. Any test results that do not carry these identifying features will not be recorded by the Kennel Club.

In order to ensure that test results are sent to the Kennel Club, customers must also sign the declaration section on the order form to give Laboklin permission to do so.

important: When you sign the declaration, Laboklin will send the results to the KC on your behalf, and you do not need to send them to the KC yourself again to avoid unnecessary duplications.

The Disease
The cord1-PRA (Cone-rod dystrophy 1) is an inherited disease of the eye that occurs in English Springer Spaniel, Miniature Long-Haired Dachshunds and Smooth-Haired Dachshunds.

The retina is a thin layer of neural cells that lines the back of the eyeball. The vertebrate retina contains photoreceptor cells (rods and cones) that respond to light. The cones mediate high-resolution vision and colour vision. The rods mediate lower-resolution, black-and-white, night vision.

The degeneration of the retina results in loss of vision, often leading to blindness. There is currently no treatment for the disease. In contrast to rod-cone dystrophies, where firstly, rod cells are affected and secondly, degeneration of the cone cells results in complete blindness of the dog, cone-rod dystrophies are characterised by the relatively early loss of cone photoreceptors.

The earliest ophtalmoscopic signs could appear about six month of age but some dogs with the mutation are not diagnosed until much later in life, so owner may never see behavioural changes and never recognise that the dog can pass the mutation onto its offspring.

Since diagnosis of retinal diseases in dogs may prove difficult, the genetic test on cord1-PRA helps to diagnose a specific form of a disease and is also a useful tool for breeders to eliminate the mutated gene from the dog population.

Description

By DNA testing, the responsible mutation can be shown directly. This method provides a test with a very high accuracy and can be done at any age. It offers the possibility to distinguish not only between affected and clear dogs, but also to identify clinically healthy carriers. This is an essential information for controlling the disease in the breed, as carriers are able to spread the disease in the population, but can not be identified by means of common laboratory diagnostic.

Trait of Inheritance
Cord1-PRA is inherited as an autosomal recessive trait. So there are three conditions a dog can be: it can be clear (genotype N/N or homozygous normal) meaning that it does not carry the mutation and will not develop the cord1-form of PRA. Since it also cannot pass the mutation onto its offspring, it can be mated to any other dog.

A dog which has one copy of the gene with the mutation and one copy without the mutation is called a carrier or heterozygous (genotype N/PRA); while it will not be affected by cord1-PRA, it can pass the mutation onto its offspring and should therefore only be mated to clear dogs.

Dogs that develop this form of PRA have two gene copies with the mutation (genotype PRA/PRA or homozygous affected); they will always pass the mutated gene onto their offspring and should also be mated only to clear dogs.


Inheritance : AUTOSOMAL RECESSIVE trait


 

Sire

 

Dam

 

Offspring

         
clear
clear
100% clear
         
clear
carrier
50%  clear + 50% carriers
         
clear
affected
100% carriers
         
carrier
clear
50%  clear + 50% carriers
         
carrier
carrier
25% clear + 25% affected + 50% carriers
         
carrier
affected
50% carriers + 50% affected
         
affected
clear
100%  carriers
         
affected
carrier
50% carriers + 50% affected
         
affected
affected
100% affected

 


Clear

Genotype: N / N [ Homozygous normal ]

The dog is noncarrier of the mutant gene.

It is very unlikely that the dog will develop Progressive Retinal Atrophy (cord1- PRA / crd4 PRA). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / PRA [ Heterozygous ]

The dog carries one copy of the mutant gene and one copy of the normal gene.

It is very unlikely that the dog will develop Progressive Retinal Atrophy (cord1- PRA / crd4 PRA) but since it carries the mutant gene, it can pass it on to its offspring with the probability of 50%.

Carriers should only be bred to clear dogs.

Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)

 

Affected

Genotype: PRA / PRA [ Homozygous mutant ]

 

The dog carries two copies of the mutant gene and therefore it will pass the mutant gene to its entire offspring.

The dog is likely to develop Progressive Retinal Atrophy (cord1- PRA / crd4 PRA) and will pass the mutant gene to its entire offspring
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
2-3 weeks
Price
£ 48.00 (including VAT)

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