title: Real-time PCR genotyping assay for feline erythrocyte pyruvate kinase deficiency and mutant allele frequency in purebred cats in Japan.
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.
authors.affiliation: Laboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, 1-21-24 Kohrimoto, Kagoshima 890-0065, Japan.
authors.forename: Kazuya
authors.initials: K
authors.lastname: Kushida
authors.forename: Urs
authors.initials: U
authors.lastname: Giger
authors.forename: Toshihiko
authors.initials: T
authors.lastname: Tsutsui
authors.forename: Megumi
authors.initials: M
authors.lastname: Inaba
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Konno
authors.forename: Kureha
authors.initials: K
authors.lastname: Hayashi
authors.forename: Kana
authors.initials: K
authors.lastname: Noguchi
authors.forename: Akira
authors.initials: A
authors.lastname: Yabuki
authors.forename: Keijiro
authors.initials: K
authors.lastname: Mizukami
authors.forename: Moeko
authors.initials: M
authors.lastname: Kohyama
authors.forename: Yasuyuki
authors.initials: Y
authors.lastname: Endo
authors.forename: Osamu
authors.initials: O
authors.lastname: Yamato
mesh_terms: D000740:Anemia / Q000175:diagnosis / Q000201:enzymology / Q000662:veterinary; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000235:genetics / Q000662:veterinary*; D000818:Animals; D002371:Cat Diseases / Q000201:enzymology* / Q000235:genetics*; D002415:Cats; D003937:Diagnosis, Differential; D005787:Gene Frequency / Q000235:genetics; D060005:Genotyping Techniques / Q000662:veterinary*; D007564:Japan; D009154:Mutation / Q000235:genetics; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics*; D015323:Pyruvate Metabolism, Inborn Errors / Q000235:genetics / Q000662:veterinary*; D060888:Real-Time Polymerase Chain Reaction / Q000662:veterinary; D013045:Species Specificity
chemical_list: D011770:Pyruvate Kinase