LABOKLIN (UK)| Genetic Diseases | Dogs| Succinic semialdehyde dehydrogenase deficiency (SSADHD)
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Succinic semialdehyde dehydrogenase deficiency (SSADHD)

Test number: 8615
Gene: SSADHD
Price: £ 48.00 (including VAT)
Breed
Saluki .
The Disease
In Saluki, a genetic variant has been found to be associated with a neurometabolic disease called Succinic semialdehyde dehydrogenase deficiency (SSADHD). SSADHD is caused by an enzyme deficiency that impairs the metabolism of gamma-aminobutric acic (GABA), which is an important neurotransmitter of the central nervous system.

Affected puppies usually show first signs of the disease at the age of 6-10 weeks. Typical symptoms are neurological abnormalities, seizures and change in behaviour. Owners of affected puppies reported that their dogs show episodes of vocalization, a mild generalized ataxia and also lethargy, so that owners often have difficulties to wake up the puppies. Further abnormalities are absent menace reflexes in both eyes, thoracic limb hypermetria and delayed proprioceptive positioning in all four limbs. In urine, liquor and brain, elevated concentrations of gamma-hydroxybutyric (GHB) acid could be found, while the concentrations of succinic semialdehyde (SSA) are often decreased.

Because of the severe symptoms, affected puppies are often euthanized at the age of 3-9 months.

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 Succinic semialdehyde dehydrogenase deficiency (SSADHD). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / SSADHD [ 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 Succinic semialdehyde dehydrogenase deficiency (SSADHD) 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: SSADHD / SSADHD [ 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 Succinic semialdehyde dehydrogenase deficiency (SSADHD) and will pass the mutant gene to its entire offspring
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
1-2 weeks
Price
£ 48.00 (including VAT)

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