| Abstract: | Erythrocyte pyruvate kinase (PK) deficiency is an inherited glycolytic erythroenzymopathycaused by mutations of the PKLR gene. A causative mutation of the felinePKLR gene was originally identified in Abyssinian and Somali cats inthe U.S.A. In the present study, a TaqMan probe-based real-time PCR genotyping assay wasdeveloped and evaluated for rapid genotyping and large-scale screening for this mutation.Furthermore, a genotyping survey was carried out in a population of four popular purebredcats in Japan to determine the current mutant allele frequency. The assay clearlydisplayed all genotypes of feline PK deficiency, indicating its suitability forlarge-scale survey as well as diagnosis. The survey demonstrated that the mutant allelefrequency in Abyssinian and Somali cats was high enough to warrant measures to control andprevent the disease. The mutant allele frequency was relatively low in Bengal and AmericanShorthair cats; however, the testing should still be carried out to prevent the spread ofthe disease. In addition, PK deficiency should always be considered in the differentialdiagnosis of anemia in purebred cats in Japan as well as worldwide. |
