Testing of dogs: Vitamin D-deficiency rickets, type IA

Usual turnaround time: 12 business days

1 test price: 56.00 $ without VAT

CZK / EUR / USD / PLN

Vitamin D-deficiency rickets, type IA in Pug

Rickets is a disease caused by vitamin D deficiency that interferes with proper bone development. It is characterized by bone deformities, soft and weak limbs, pain with movement and delayed growth of the teeth.

Type 1A disease in pugs is caused by the nonsense mutation c.261C>A in the CYP27B1 gene, which encodes one of the enzymes that converts vitamin D to its active form.

The mode of inheritance of the mutation is autosomal recessive. This means that only individuals who inherit the mutated gene from both parents will develop the disease. Carriers of the mutated gene are clinically healthy but pass the mutation on to their offspring. In the case of a mating between two heterozygous individuals, theoretically 25% of the offspring will be completely healthy, 50% of the offspring will be carriers and 25% of the offspring will inherit the mutated gene from both parents and will therefore be affected by the disease.

The genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of affected puppies.

References:

Rohdin, C., Wang, C., Brander, G., Rondahl, V., Karlsson, Å., Friling, L., Fischetti, A., Meadows, J., Häggström, J., Jäderlund, K.H., Ljungvall, I., Lindblad-Toh, K. : Mutations in the CYP27B1 gene cause vitamin D dependent rickets in pugs. J Vet Intern Med 37:1507-1513, 2023. Pubmed reference: 37293695

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Usual turnaround time: 12 business days

1 test price: 56.00 $ without VAT

CZK / EUR / USD / PLN

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Testing of dogs: Vitamin D-deficiency rickets, type IA

Vitamin D-deficiency rickets, type IA in Pug

Breed list