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

Mohammad Mahbubur RAHMAN; Akira YABUKI; Moeko KOHYAMA; Sawane MITANI; Keijiro MIZUKAMI; Mohammad Mejbah UDDIN; Hye-Sook CHANG; Kazuya KUSHIDA; Miori KISHIMOTO; Remi YAMABE; Osamu YAMATO

doi:10.1292/jvms.13-0443

Internal Medicine

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

Mohammad Mahbubur RAHMAN, Akira YABUKI, Moeko KOHYAMA, Sawane MITANI, Keijiro MIZUKAMI, Mohammad Mejbah UDDIN, Hye-Sook CHANG, Kazuya KUSHIDA, Miori KISHIMOTO, Remi YAMABE, Osamu YAMATO

Author information

Mohammad Mahbubur RAHMAN
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
Akira YABUKI
Laboratory of Clinical Pathology, Department of Veterinary Medicine, Joint Faculty of Veterinary Medicine, Kagoshima University, 1–21–24 Kohrimoto, Kagoshima 890–0065, Japan
Moeko KOHYAMA
Laboratory of Clinical Pathology, Department of Veterinary Medicine, Joint Faculty of Veterinary Medicine, Kagoshima University, 1–21–24 Kohrimoto, Kagoshima 890–0065, Japan
Sawane MITANI
Laboratory of Clinical Pathology, Department of Veterinary Medicine, Joint Faculty of Veterinary Medicine, Kagoshima University, 1–21–24 Kohrimoto, Kagoshima 890–0065, Japan
Keijiro MIZUKAMI
Laboratory of Clinical Pathology, Department of Veterinary Medicine, Joint Faculty of Veterinary Medicine, Kagoshima University, 1–21–24 Kohrimoto, Kagoshima 890–0065, Japan
Mohammad Mejbah UDDIN
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
Hye-Sook CHANG
Laboratory of Clinical Pathology, Department of Veterinary Medicine, Joint Faculty of Veterinary Medicine, Kagoshima University, 1–21–24 Kohrimoto, Kagoshima 890–0065, Japan
Kazuya KUSHIDA
Laboratory of Clinical Pathology, Department of Veterinary Medicine, Joint Faculty of Veterinary Medicine, Kagoshima University, 1–21–24 Kohrimoto, Kagoshima 890–0065, Japan
Miori KISHIMOTO
Tokyo University of Agriculture and Technology, 3–5–8 Saiwai-cho, Fuchu, Tokyo 183–8509, Japan
Remi YAMABE
Monolis, Inc., 8–31–6 Higashi-machi, Shindaiji, Chohu, Tokyo 182–0012, Japan
Osamu YAMATO
Laboratory of Clinical Pathology, Department of Veterinary Medicine, Joint Faculty of Veterinary Medicine, Kagoshima University, 1–21–24 Kohrimoto, Kagoshima 890–0065, Japan

Keywords: canine GM2 gangliosidosis variant 0, carrier frequency, real-time PCR genotyping, Sandhoff disease, toy poodle dog

JOURNAL FREE ACCESS

2014 Volume 76 Issue 2 Pages 295-299

DOI https://doi.org/10.1292/jvms.13-0443

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Abstract

GM2 gangliosidosis variant 0 (Sandhoff disease, SD) is a fatal, progressive neurodegenerative lysosomal storage disease caused by mutations of the HEXB gene. In canine SD, a pathogenic mutation (c.283delG) of the canine HEXB 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.

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