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

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Author(s)

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

Abstract

Erythrocyte pyruvate kinase (PK) deficiency is an inherited glycolytic erythroenzymopathy caused by mutations of the <i>PKLR</i> gene. A causative mutation of the feline <i>PKLR</i> 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.

Journal

  • Journal of Veterinary Medical Science

    Journal of Veterinary Medical Science 77(6), 743-746, 2015

    JAPANESE SOCIETY OF VETERINARY SCIENCE

Codes

  • NII Article ID (NAID)
    130005085863
  • NII NACSIS-CAT ID (NCID)
    AA10796138
  • Text Lang
    ENG
  • ISSN
    0916-7250
  • NDL Article ID
    026576801
  • NDL Call No.
    Z18-350
  • Data Source
    NDL  J-STAGE 
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