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LABOKLIN (UK)| Genetic Diseases | Dogs| Glycogen storage disease type Ia (GSD Ia) / VON Grieke Disease
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Glycogen storage disease type Ia (GSD Ia) / VON Grieke Disease

Test number: 8322
Gene: GSD la
Price: £ 48.00 (including VAT)
Breeds
German Pinscher , Maltese .
The Disease
Glycogen storage disease type 1 (GSD 1) is caused by a dysfunction of the glycoregulation, which leads to mass storage of glycogen in organs. The ability to bind and cleave gflucose to and from glycogen depends on the branched structure of glycogen. Two enzymes regulate the shape of this structure: glycogen branching enzyme (GBE) builds it up; glycogen de-branching enzyme (GDE) breaks it down. The function of GBE is altered by a mutation, that leads to a change in the structure of glycogen and inhibits its degradation. Therefore, accumulation of glycogen in liver, muscle and nerve cells results in gradual dysfunction of these organs. Affected puppies exhibit symptoms like depression, bad nutritional state and slow growth early on.
Trait of Inheritance
autosomal recessive

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 Glycogen storage disease type Ia (GSD Ia) / VON Grieke Disease. The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / GSD la [ 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 Glycogen storage disease type Ia (GSD Ia) / VON Grieke 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: GSD la / GSD la [ 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 Glycogen storage disease type Ia (GSD Ia) / VON Grieke Disease and will pass the mutant gene to its entire offspring
Description

the disease is caused by a mutation in the G6PC gene

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

To order:




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