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Fucosidosis
Test number: 8016
Gene: Fucosidosis
Price: £ 48.00 (including VAT)
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Breed
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English Springer 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 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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Fucosidosis is a lysosomal storage disorder caused by deficiency of the enzyme a-L-fucosidase. In an healthy animal, this enzyme cleaves complex proteins and lipids so that they can be metabolised. A diseased animal lacks this enzyme whereby the complex proteins and lipids are stored in diverse organs; for example in lymph nodes, pancreas, liver, kidneys, lungs and bone marrow and especially in cerebral and neural tissue. The disease in the Springer Spaniel manifests as a mainly neurological syndrome with mixed motor and mental function deficits. Affected animals show a disturbed coordination of movements, behavioural abnormalities, blindness, deafness and problems in deglutition. The disease occurs between the age of 18 months and 4 years with a progressive course and finally lethal outgoing.
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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 Fucosidosis and Phosphofructokinase Deficiency in the English Springer Spaniels have 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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Fucosidosis 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. 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 Fucosidosis. The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.
Carrier
Genotype: N / Fucosidosis [ 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 Fucosidosis 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: Fucosidosis / Fucosidosis [ 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 Fucosidosis 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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