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PFK Deficiency (Phosphofructokinase deficiency / PFKD)
Test number: 8017
Gene: PFKD
Price: £ 48.00 (including VAT)
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Breeds
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American Cocker Spaniel
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Cockapoo (American)
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English Springer Spaniel
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German Spaniel (Wachtelhund)
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Whippet
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Kennel Club
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This test is part of the Official UK Kennel Club DNA Testing Scheme in English Springer 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 |
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Muscle type phosphofructokinase deficiency is an inherited glycogen storage disease. It is caused by a nonsense mutation, which leads to a lack of phosphofructokinase subunits or activity. Without the PFK enzyme muscle cells and erythrocytes are not able to produce enough adequate energy for their needs. Therefore affected dogs display the following intermittent, clinical signs: weakness, lethargy, exercise intolerance, poor performance, muscle cramps, anaemia, jaundice and dark-coloured urine. Dark-coloured urine, a hallmark of this disorder, usually appears after strenuous exercise or after excessive barking, panting or heat exposure and is caused by the destruction of the erythrocytes.
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Description |
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This is a mutation-based gene test, which offers many advantages over other methods
The genetic defects leading to Phosphofructokinase Deficiency in the English Springer Spaniels has been identified. By DNA testing the responsible mutation can be shown directly. This method provides a very high test accuracy and can be done at any age. It offers the possibility to distinguish not only between affected and normal / unaffected 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. If a particularly valuable dog turns out to be a carrier, it can be bred to a clear animal, and non-carrier puppies saved for the next round of breeding.
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Trait of Inheritance |
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Phosphofructokinase Deficiency is inherited in an autosomal recessive trait. This means that an English Springer Spaniel can be genetically clear (also called homozygous normal), a carrier (also called heterozygous) or affected concerning the Fucosidosis and Phosphofructokinase Deficiency respectively. Especially the carriers can spread the diseased gene in the population. Therefore reliable information of dogs that do not carry disease genes is the key to controlling this disease.
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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 PFK Deficiency (Phosphofructokinase deficiency / PFKD). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / PFKD [ 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 PFK Deficiency (Phosphofructokinase deficiency / PFKD) 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: PFKD / PFKD [ 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 PFK Deficiency (Phosphofructokinase deficiency / PFKD) 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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