Real-Time PCR Genotyping Assay for GM2 Gangliosidosis Variant 0 in Toy Poodles and the Mutant Allele Frequency in Japan

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Author(s)

    • RAHMAN Mohammad Mahbubur RAHMAN Mohammad Mahbubur
    • Laboratory of Clinical Pathology, Department of Veterinary Medicine, Joint Faculty of Veterinary Medicine, Kagoshima University, 1–21–24 Kohrimoto, Kagoshima 890–0065, Japan|Chittagong Veterinary and Animal Sciences University, Chittagong 4202, Bangladesh
    • KOHYAMA Moeko [他] YAMATO Osamu
    • Laboratory of Clinical Pathology, Department of Veterinary Medicine, Joint Faculty of Veterinary Medicine, Kagoshima University, 1–21–24 Kohrimoto, Kagoshima 890–0065, Japan
    • YABUKI Akira
    • Laboratory of Clinical Pathology, Department of Veterinary Medicine, Joint Faculty of Veterinary Medicine, Kagoshima University, 1–21–24 Kohrimoto, Kagoshima 890–0065, Japan
    • KOHYAMA Moeko
    • Laboratory of Clinical Pathology, Department of Veterinary Medicine, Joint Faculty of Veterinary Medicine, Kagoshima University, 1–21–24 Kohrimoto, Kagoshima 890–0065, Japan
    • MITANI Sawane
    • Laboratory of Clinical Pathology, Department of Veterinary Medicine, Joint Faculty of Veterinary Medicine, Kagoshima University, 1–21–24 Kohrimoto, Kagoshima 890–0065, Japan
    • MIZUKAMI Keijiro
    • Laboratory of Clinical Pathology, Department of Veterinary Medicine, Joint Faculty of Veterinary Medicine, Kagoshima University, 1–21–24 Kohrimoto, Kagoshima 890–0065, Japan
    • UDDIN Mohammad Mejbah
    • Laboratory of Clinical Pathology, Department of Veterinary Medicine, Joint Faculty of Veterinary Medicine, Kagoshima University, 1–21–24 Kohrimoto, Kagoshima 890–0065, Japan|Chittagong Veterinary and Animal Sciences University, Chittagong 4202, Bangladesh
    • CHANG Hye-Sook
    • Laboratory of Clinical Pathology, Department of Veterinary Medicine, Joint Faculty of Veterinary Medicine, Kagoshima University, 1–21–24 Kohrimoto, Kagoshima 890–0065, Japan
    • KUSHIDA Kazuya
    • Laboratory of Clinical Pathology, Department of Veterinary Medicine, Joint Faculty of Veterinary Medicine, Kagoshima University, 1–21–24 Kohrimoto, Kagoshima 890–0065, Japan
    • KISHIMOTO Miori
    • Tokyo University of Agriculture and Technology, 3–5–8 Saiwai-cho, Fuchu, Tokyo 183–8509, Japan

Abstract

GM2 gangliosidosis variant 0 (Sandhoff disease, SD) is a fatal, progressive neurodegenerative lysosomal storage disease caused by mutations of the <i>HEXB</i> gene. In canine SD, a pathogenic mutation (c.283delG) of the canine <i>HEXB</i> gene has been identified in toy poodles. In the present study, a TaqMan probe-based real-time PCR genotyping assay was developed and evaluated for rapid and large-scale genotyping and screening for this mutation. Furthermore, a genotyping survey was carried out in a population of toy poodles in Japan to determine the current mutant allele frequency. The real-time PCR assay clearly showed all genotypes of canine SD. The assay was suitable for large-scale survey as well as diagnosis, because of its high throughput and rapidity. The genotyping survey demonstrated a carrier frequency of 0.2%, suggesting that the current mutant allele frequency is low in Japan. However, there may be population stratification in different places, because of the founder effect by some carriers. Therefore, this new assay will be useful for the prevention and control of SD in toy poodles.

Journal

  • Journal of Veterinary Medical Science

    Journal of Veterinary Medical Science 76(2), 295-299, 2014

    JAPANESE SOCIETY OF VETERINARY SCIENCE

Codes

  • NII Article ID (NAID)
    130003382367
  • NII NACSIS-CAT ID (NCID)
    AA10796138
  • Text Lang
    ENG
  • ISSN
    0916-7250
  • NDL Article ID
    025297285
  • NDL Call No.
    Z18-350
  • Data Source
    NDL  J-STAGE 
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