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

Journal of Veterinary Medical Science

Sawane MITANI³  Mohammad Mahbubur RAHMAN³  Miori KISHIMOTO¹  Moeko KOHYAMA³  Hye-Sook CHANG³  Keijiro MIZUKAMI³  Remi YAMABE²  Kazuya KUSHIDA³  Mohammad Mejbah UDDIN³  Akira YABUKI³  Osamu YAMATO³ 

[1] Tokyo University of Agriculture and Technology, 3�?5�?8 Saiwai-cho, Fuchu, Tokyo 183�?8509, Japan;Monolis, Inc., 8�?31�?6 Higashi-machi, Shindaiji, Chohu, Tokyo 182�?0012, Japan;Laboratory of Clinical Pathology, Department of Veterinary Medicine, Joint Faculty of Veterinary Medicine, Kagoshima University, 1�?21�?24 Kohrimoto, Kagoshima 890�?0065, Japan

关键词: canine GM2 gangliosidosis variant 0;    carrier frequency;    real-time PCR genotyping;    Sandhoff disease;    toy poodle dog;   

DOI  :  10.1292/jvms.13-0443

学科分类：兽医学

来源: Japanese Society of Veterinary Science

【 摘 要 】

References(17)Cited-By(1)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.

【 授权许可】

Unknown