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Globoid Cell Leukodystrophy (Krabbe Disease)

Test number: 8007
Gene: GLD
Price: £ 48.00 (including VAT)
Breeds
Cairn Terrier , Irish Setter (Red Setter) , West Highland White Terrier .
The Disease
Globoid cell leukodystrophy or Krabbe disease is a severe, autosomal recessive dirsorder resulting from a deficiency of galactocerebrosidase (GALC) activity whereby the white matter is degenerated. Clinically, the symptoms appear between the 1st and 3rd months of age. Weakness of the limbs and tremors appear first, followed by muscular atrophy and neurological degeneration. The affected dogs may live until 8 or 9 months of age, when the symptoms become so severe that the dog is usually euthanized. Pathological studies of the white matter from affected dogs show characteristic globoid cells and loss of myelin.
Trait of Inheritance
Globoid Cell Leukodystrophy (Krabbe) in West Highland White and Cairn Terriers is an inherited autosomal recessive trait. This means that a dog can be clear (homozygous normal), affected, or a carrier (heterozygous). The carriers can spread the diseased gene in the population. Therefore, reliable information on non-affected dogs is the key to controlling this disease.

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 Globoid Cell Leukodystrophy (Krabbe Disease). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / GLD [ 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 Globoid Cell Leukodystrophy (Krabbe Disease) 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: GLD / GLD [ 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 Globoid Cell Leukodystrophy (Krabbe Disease) and will pass the mutant gene to its entire offspring
Description

This is a mutation-based gene test, which offers many advantages over other methods

Progress in molecular genetics has allowed the identification of the gene mutation responsible for Globoid Cell Leukodystrophy (Krabbe) in West Highland White and Cairn Terriers. By DNA testing, the responsible mutation can be shown directly. This method provides a very high accuracy test 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. If a particularly valuable dog turns out to be a carrier, it can be bred to a non-affected animal, and non-carrier puppies can be saved for the next round of breeding.

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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