Allele-specific polymerase chain reaction diagnostic test for the functional MDR1 polymorphism in dogs

Baars, Cordula; Leeb, Tosso; von Klopmann, Thilo; Tipold, Andrea; Potschka, Heidrun (2008). Allele-specific polymerase chain reaction diagnostic test for the functional MDR1 polymorphism in dogs. Veterinary journal, 177(3), pp. 394-397. Elsevier 10.1016/j.tvjl.2007.05.020

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The major multidrug transporter P-glycoprotein (Pgp) contributes to the barrier function of several tissues and organs, including the brain. In a subpopulation of Collies and seven further dog breeds, a 4 base pair deletion has been described in the Pgp-encoding MDR1 gene. This deletion results in the absence of a functional form of Pgp and loss of its protective function. Severe intoxication with the Pgp substrate ivermectin has been attributed to the genetically determined lack of Pgp. An allele-specific polymerase chain reaction (PCR)-based screening method has been developed to detect the mutant allele and to determine if a dog is homozygous or heterozygous for the mutation. Based on this validation, the allele-specific PCR proved to be a robust, reproducible and specific tool, allowing rapid determination of the MDR1 genotype of dogs of at risk breeds using blood samples or buccal swabs.

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