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

• Published in: Journal of Veterinary Medical Science Vol. 76; no. 2; pp. 295 - 299
• Main Authors: RAHMAN, Mohammad Mahbubur, YABUKI, Akira, KOHYAMA, Moeko, MITANI, Sawane, MIZUKAMI, Keijiro, UDDIN, Mohammad Mejbah, CHANG, Hye-Sook, KUSHIDA, Kazuya, KISHIMOTO, Miori, YAMABE, Remi, YAMATO, Osamu
• Format: Journal Article
• Language: English
• Published: Japan JAPANESE SOCIETY OF VETERINARY SCIENCE 2014; Japan Science and Technology Agency; The Japanese Society of Veterinary Science
• Subjects: Animals; beta-Hexosaminidase beta Chain - genetics; canine GM2 gangliosidosis variant 0; carrier frequency; DNA Primers - genetics; Dog Diseases - epidemiology; Dog Diseases - genetics; Dogs; Gene Frequency; Genotype; Internal Medicine; Japan - epidemiology; Pedigree; real-time PCR genotyping; Real-Time Polymerase Chain Reaction - veterinary; Sandhoff disease; Sandhoff Disease - epidemiology; Sandhoff Disease - genetics; Sandhoff Disease - veterinary; toy poodle dog; Japan
• ISSN: 0916-7250; 1347-7439
• DOI: 10.1292/jvms.13-0443

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.