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PDP 1 Deficiency (Pyruvate Dehydrogenase Phosphatase 1 Deficiency)

Test number: 8104
Gene: PDP1
Price: £ 48.00 (including VAT)
Breeds
Clumber Spaniel , Sussex Spaniel .
Kennel Club
This test is part of the Official UK Kennel Club DNA Testing Scheme in Clumber Spaniel.

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

DPD1 Deficiency is a genetic disease that affects Clumber and Sussex Spaniel. The disease is characterised by dramatic exercise intolerance and post exercise collapse. Affected dogs may have a shortened life span due to heart and lung complications, there is also some indication that this mutation maybe involved with early foetal death or death in the neonatal period (Cameron J, Shelton D, 2005). Neurological symptom may also be seen.

What is PDP1 ?

PDP1 is short for Pyruvate Dehydrogenase Phosphatase 1 which is and enzyme that is present in every cell of the body. It is involved in the conversion of food into energy and therefore it is not only vital for the function of the cells but for survival.
 

Trait of Inheritance

PDP1 Deficiency is inherited as an autosomal recessive trait, which means that dogs must have two copies of the abnormal gene in order to be affected and develop the disease. Dogs with one copy of the normal gene and one copy of the abnormal gene are called carriers. Carriers do not develop the disease but since they carry one copy of the abnormal gene they can pass the mutation onto their offspring with a probability of 50%, therefore carrier dogs should only be mated to clear dogs. There is no need to exclude carriers from breeding, as long as they are mated with clear dogs there is no risk that the puppies will develop the disease. Clear dogs have two copies of the normal gene and will not develop the disease or pass the PDP1 gene to their offspring; therefore they can be mated to any dog.


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 PDP 1 Deficiency (Pyruvate Dehydrogenase Phosphatase 1 Deficiency). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / PDP1 [ 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 PDP 1 Deficiency (Pyruvate Dehydrogenase Phosphatase 1 Deficiency) 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: PDP1 / PDP1 [ 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 PDP 1 Deficiency (Pyruvate Dehydrogenase Phosphatase 1 Deficiency) and will pass the mutant gene to its entire offspring
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.

Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
2 - 3 weeks
Price
£ 48.00 (including VAT)

To order:




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