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

Journal of Veterinary Medical Science

Megumi INABA¹  Kana NOGUCHI¹  Toshihiko TSUTSUI¹  Kureha HAYASHI¹  Yasuyuki ENDO³  Moeko KOHYAMA²  Keijiro MIZUKAMI²  Urs GIGER⁴  Kazuya KUSHIDA²  Yoshio KONNO¹  Akira YABUKI²  Osamu YAMATO² 

[1] International Institute of Small Animal Medicine (Bio Plus), AHB Inc., 3�?7�?11 Kiba, Koutou-ku, Tokyo 135�?0042, Japan;Laboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, 1�?21�?24 Kohrimoto, Kagoshima 890�?0065, Japan;Laboratory of Small Animal Internal Medicine, 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.

关键词: anemia;    feline PKLR gene;    mutant allele frequency;    pyruvate kinase deficiency;    real-time PCR genotyping;   

DOI  :  10.1292/jvms.14-0600

学科分类：兽医学

来源: Japanese Society of Veterinary Science

【 摘 要 】

References(17)Erythrocyte pyruvate kinase (PK) deficiency is an inherited glycolytic erythroenzymopathycaused by mutations of the PKLR gene. A causative mutation of the felinePKLR gene was originally identified in Abyssinian and Somali cats inthe U.S.A. In the present study, a TaqMan probe-based real-time PCR genotyping assay wasdeveloped 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 purebredcats in Japan to determine the current mutant allele frequency. The assay clearlydisplayed all genotypes of feline PK deficiency, indicating its suitability forlarge-scale survey as well as diagnosis. The survey demonstrated that the mutant allelefrequency in Abyssinian and Somali cats was high enough to warrant measures to control andprevent the disease. The mutant allele frequency was relatively low in Bengal and AmericanShorthair cats; however, the testing should still be carried out to prevent the spread ofthe disease. In addition, PK deficiency should always be considered in the differentialdiagnosis of anemia in purebred cats in Japan as well as worldwide.

【 授权许可】

Unknown