Real-time PCR genotyping assay for feline erythrocyte pyruvate kinase          deficiency and mutant allele frequency in purebred cats in Japan

Kazuya KUSHIDA; Urs GIGER; Toshihiko TSUTSUI; Megumi INABA; Yoshio KONNO; Kureha HAYASHI; Kana NOGUCHI; Akira YABUKI; Keijiro MIZUKAMI; Moeko KOHYAMA; Yasuyuki ENDO; Osamu YAMATO

doi:10.1292/jvms.14-0600

Internal Medicine

Real-time PCR genotyping assay for feline erythrocyte pyruvate kinase deficiency and mutant allele frequency in purebred cats in Japan

Kazuya KUSHIDA, Urs GIGER, Toshihiko TSUTSUI, Megumi INABA, Yoshio KONNO, Kureha HAYASHI, Kana NOGUCHI, Akira YABUKI, Keijiro MIZUKAMI, Moeko KOHYAMA, Yasuyuki ENDO, Osamu YAMATO

Author information

Kazuya KUSHIDA
Laboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, 1–21–24 Kohrimoto, Kagoshima 890–0065, Japan
Urs GIGER
Section of Medical Genetics, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, U.S.A.
Toshihiko TSUTSUI
International Institute of Small Animal Medicine (Bio Plus), AHB Inc., 3–7–11 Kiba, Koutou-ku, Tokyo 135–0042, Japan
Megumi INABA
International Institute of Small Animal Medicine (Bio Plus), AHB Inc., 3–7–11 Kiba, Koutou-ku, Tokyo 135–0042, Japan
Yoshio KONNO
International Institute of Small Animal Medicine (Bio Plus), AHB Inc., 3–7–11 Kiba, Koutou-ku, Tokyo 135–0042, Japan
Kureha HAYASHI
International Institute of Small Animal Medicine (Bio Plus), AHB Inc., 3–7–11 Kiba, Koutou-ku, Tokyo 135–0042, Japan
Kana NOGUCHI
International Institute of Small Animal Medicine (Bio Plus), AHB Inc., 3–7–11 Kiba, Koutou-ku, Tokyo 135–0042, Japan
Akira YABUKI
Laboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, 1–21–24 Kohrimoto, Kagoshima 890–0065, Japan
Keijiro MIZUKAMI
Laboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, 1–21–24 Kohrimoto, Kagoshima 890–0065, Japan
Section of Medical Genetics, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, U.S.A.
Moeko KOHYAMA
Laboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, 1–21–24 Kohrimoto, Kagoshima 890–0065, Japan
Yasuyuki ENDO
Laboratory of Small Animal Internal Medicine, Joint Faculty of Veterinary Medicine, Kagoshima University, 1–21–24 Kohrimoto, Kagoshima 890–0065, Japan
Osamu YAMATO
Laboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, 1–21–24 Kohrimoto, Kagoshima 890–0065, Japan

Keywords: anemia, feline PKLR gene, mutant allele frequency, pyruvate kinase deficiency, real-time PCR genotyping

JOURNAL FREE ACCESS

2015 Volume 77 Issue 6 Pages 743-746

DOI https://doi.org/10.1292/jvms.14-0600

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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.

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