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Vitamin D-dependent Rickets (HVDRR)

Test number: 8302
Gene: VDR
Price: £ 48.00 (including VAT)
Breed
Pomeranian .
The Disease
Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets).

The disease is also known as Hereditary Vitamin D-Resistant Rickets (HVDRR).

Vitamin D enhances bone mineralization and calcium which are essential for hardening and strengthening the bones.

Affected dogs have defects in the vitamin D receptors in the target tissue which inhibit bone mineralization causing softening, weakening and bending of the bones and skeletal malformations. Clinical signs include limb deformities, joint pain, lameness, limb deformities, spontaneous fractures, jaw deformities, and neurological signs. The disease can also cause alopecia. The causative mutation has been identified in Pomeranians. The condition is inherited as an autosomal recessive trait.

In affected dogs calcium levels are low (Hypocalcemia) which are necessary for the normal formation of bones and teeth. Affected dogs also have low levels of parathyroid hormone (PTH) which leads to secondary hyperparathyroidism.

Treatment: oral administration of active vitamin D and calcium supplements, however, bone deformities are irreversible.

Trait of Inheritance
.

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 Vitamin D-dependent Rickets (HVDRR). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / VDR [ 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 Vitamin D-dependent Rickets (HVDRR) 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: VDR / VDR [ 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 Vitamin D-dependent Rickets (HVDRR) 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
2 - 3 weeks
Price
£ 48.00 (including VAT)

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