Description: The canine multidrug resistance gene ABCB1 codes for the cellular P-glycoprotein (P-gp) which belongs to the superfamily of ABC transporters. P-gp utilizes energy from ATP hydrolysis to transport drugs, toxins, xenobiotics, and other macromolecules, including drugs used in veterinary medicine out of the cell against the concentration gradient. The primary function of P-gp is to prevent the uptake of toxic compounds from the gut into the body and expel them in the bile or urine and thus protect some very sensitive organs, such as the brain. The deletion of 4-base pairs in the canine ABCB1 (MDR1) gene, responsible for encoding P-glycoprotein, leads to nonsense frame-shift mutation, which causes hypersensitivity to macrocyclic lactones drugs (e.g. ivermectin). The defective function of P-glycoprotein can lead to severe neurotoxic, potentially fatal, adverse drug reactions because of enhanced CNS exposure to drugs.
Inheritance: autosomal recessive
Mutation: c.228_231del in ABCB1 gene, chr14: g.13726596_13726599del
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes. For official purposes, the confirmation of the dog’s identity by Veterinarian is recommended.
The analysis is suitable for the following breeds: Australian Shepherd (Mini AUO), Bobtail, Border Collie, Collie rough, Collie smooth, German shepherd dog, Longhaired Whippet, Old English Sheepdog, Shetland Sheepdog, Silken Windsprite, Silken Windhound, White Swiss Shepherd, Wäller