Mutant Allele Frequency of Erythrocyte Pyruvate Kinase Deficiency in the Mixed-Breed Cat Population in Asian and North African Countries
Erythrocyte pyruvate kinase (PK) deficiency, an inherited glycolytic erythroenzymopathy caused by mutations of the PKLR gene, has been documented in humans, mice, dogs, and cats. In feline PK deficiency, a pathogenic mutation of the feline PKLR gene was identified in Abyssinian and Somali cats in the 1990s. Subsequent studies have demonstrated that the mutant allele frequency of PK deficiency of these two breeds were high in the USA, Europe, and Australia. However, there is no detailed information about the mutant allele frequency in the mixed-breed cat population.
To examine the allele frequencies of PK deficiency in mixed-breed cats in Asian and North African countries.
Blood samples were collected from 1390 mixed-breed cats in total: Japan (1090), Bangladesh (167), South Korea (78), and Libya (55). Genotyping was carried out using TaqMan minor groove binder probe-based real-time PCR method.
The genotyping survey demonstrated that the mutant allele frequency was high (0.144) in Bangladesh, where two affected cats were found. In Japan, on the other hand, the mutant allele frequency was low (0.009), but existed. In South Korea and Libya, no mutant allele was found.
The genotyping survey demonstrated that the mutant allele is present in the mixed-breed cat population, at least in Asian countries such as Japan and Bangladesh. The frequency was very high in Bangladesh. Therefore, PK deficiency should be differentiated in anemic cats in the regions where the mutant allele frequencies are high.