title: Real-time PCR genotyping assay for GM2 gangliosidosis variant 0 in toy poodles and the mutant allele frequency in Japan.
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.
authors.affiliation: Laboratory of Clinical Pathology, Department of Veterinary Medicine, Joint Faculty of Veterinary Medicine, Kagoshima University, 1-21-24 Kohrimoto, Kagoshima 890-0065, Japan.
authors.forename: Mohammad Mahbubur
authors.initials: MM
authors.lastname: Rahman
authors.forename: Akira
authors.initials: A
authors.lastname: Yabuki
authors.forename: Moeko
authors.initials: M
authors.lastname: Kohyama
authors.forename: Sawane
authors.initials: S
authors.lastname: Mitani
authors.forename: Keijiro
authors.initials: K
authors.lastname: Mizukami
authors.forename: Mohammad Mejbah
authors.initials: MM
authors.lastname: Uddin
authors.forename: Hye-Sook
authors.initials: HS
authors.lastname: Chang
authors.forename: Kazuya
authors.initials: K
authors.lastname: Kushida
authors.forename: Miori
authors.initials: M
authors.lastname: Kishimoto
authors.forename: Remi
authors.initials: R
authors.lastname: Yamabe
authors.forename: Osamu
authors.initials: O
authors.lastname: Yamato
mesh_terms: D000818:Animals; D017931:DNA Primers / Q000235:genetics; D004283:Dog Diseases / Q000453:epidemiology* / Q000235:genetics*; D004285:Dogs; D005787:Gene Frequency; D005838:Genotype; D007564:Japan / Q000453:epidemiology; D010375:Pedigree; D060888:Real-Time Polymerase Chain Reaction / Q000662:veterinary; D012497:Sandhoff Disease / Q000453:epidemiology / Q000235:genetics / Q000662:veterinary*; D054821:beta-Hexosaminidase beta Chain / Q000235:genetics*
chemical_list: D017931:DNA Primers; D054821:beta-Hexosaminidase beta Chain