Abstract: | Erythrocyte pyruvate kinase (PK) deficiency is an inherited glycolytic erythroenzymopathy
caused by mutations of the PKLR gene. A causative mutation of the feline
PKLR gene was originally identified in Abyssinian and Somali cats in
the U.S.A. In the present study, a TaqMan probe-based real-time PCR genotyping assay was
developed 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 purebred
cats in Japan to determine the current mutant allele frequency. The assay clearly
displayed all genotypes of feline PK deficiency, indicating its suitability for
large-scale survey as well as diagnosis. The survey demonstrated that the mutant allele
frequency in Abyssinian and Somali cats was high enough to warrant measures to control and
prevent the disease. The mutant allele frequency was relatively low in Bengal and American
Shorthair cats; however, the testing should still be carried out to prevent the spread of
the disease. In addition, PK deficiency should always be considered in the differential
diagnosis of anemia in purebred cats in Japan as well as worldwide. |