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

• KUSHIDA Kazuya

  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.

• KOHYAMA Moeko

  Laboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, 1–21–24 Kohrimoto, Kagoshima 890–0065, Japan

• 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

書誌事項

タイトル別名

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

抄録

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.

収録刊行物

• Ｔｈｅ　Ｊｏｕｒｎａｌ　ｏｆ　Ｖｅｔｅｒｉｎａｒｙ　Ｍｅｄｉｃａｌ　Ｓｃｉｅｎｃｅ

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

  公益社団法人 日本獣医学会

キーワード

• anemia
• feline <i>PKLR</i> gene
• mutant allele frequency
• pyruvate kinase deficiency
• real-time PCR genotyping

詳細情報

• CRID: 1390001206429029376
• NII論文ID: 130005085863
• NII書誌ID: AA10796138
• DOI: 10.1292/jvms.14-0600
• ISSN: 13477439
• ISSN: 09167250
• NDL書誌ID: 026576801
• PubMed: 25716288
• Web Site: https://ndlsearch.ndl.go.jp/books/R000000004-I026576801
• Web Site: https://search.jamas.or.jp/link/ui/2016026697
• 本文言語コード: en
• データソース種別:
  • JaLC
  • NDL
  • Crossref
  • PubMed
  • CiNii Articles
  • KAKEN
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