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Breeds
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Clumber Spaniel
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Sussex Spaniel
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Kennel Club
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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.
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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.
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Description |
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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.
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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.
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Inheritance : AUTOSOMAL
RECESSIVE
trait
Sire
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Dam
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Offspring
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clear
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clear
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100% clear
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clear
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carrier
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50% clear + 50%
carriers
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clear
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affected
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100% carriers
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carrier
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clear
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50% clear + 50%
carriers
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carrier
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carrier
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25% clear + 25% affected
+ 50% carriers
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carrier
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affected
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50% carriers + 50%
affected
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affected
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clear
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100% carriers
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affected
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carrier
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50% carriers + 50%
affected
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affected
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affected
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100% affected
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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
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Price
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£ 48.00 (including VAT)
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