Rapid and simple polymerase chain reaction-based diagnostic assays for GM2 gangliosidosis variant 0 (Sandhoff-like disease) in Japanese domestic cats

Journal of Veterinary Diagnostic Investigation

Volumn 23, Issue 2, 2011, Pages 338-342

  Rahman, Mohammad M ^a   Shoubudani, Tomoaki ^a   Mizukami, Keijiro ^a   Chang, Hye Sook ^a   Hossain, Mohammad A ^a   Yabuki, Akira ^a   Mitani, Sawane ^a   Higo, Takashi ^b   Arai, Toshiro ^c   Yamato, Osamu ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

^b The Chuo Aiken Animal Hospital   (Japan)

^c NIPPON VETERINARY AND LIFE SCIENCE UNIVERSITY   (Japan)

Author keywords

Feline sandhoff like disease; Gm2 gangliosidosis variant 0; Japanese domestic cats; Microchip electrophoresis; Polymerase chain reaction

Indexed keywords

FELIDAE; FELIS CATUS;

EID: 79952607798     PISSN: 10406387     EISSN: None     Source Type: Journal    
DOI: 10.1177/104063871102300224     Document Type: Article

References (20)

1. Akamine R, Yatsushiro S, Yamamura S, et al.: 2009, Direct endonuclease digestion and multi-analysis of restriction fragment length polymorphisms by microchip electrophoresis. J Pharm Biomed Anal 50:947-953.
2. Baric S, Kerschbamer C, Dalla-Via J: 2006, TaqMan real-time PCR versus four conventional PCR assays for detection of apple proliferation phytoplasma. Plant Mol Biol Rep 24:169-184.
3. Bradbury AM, Morrison NE, Hwang M, et al.: 2009, Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminidase beta-subunit deficiency. Mol Genet Metab 97:53-59.
4. Cork LC, Munnell JF, Lorenz MD, et al.: 1977, GM2 ganglioside lysosomal storage disease in cats with betahexosaminidase deficiency. Science 196:1014-1017.
5. Gravel RA, Kaback MM, Proia RL, et al.: 2001, GM2 gangliosidoses. In: The metabolic and molecular bases of inherited disease, ed. Scriver CR, Beaudet AL, Sly WS, Valle D, 8th ed., pp. 3827-3876. McGraw-Hill, New York, NY.
6. Haliassos A, Chomel JC, Grandjouan S, et al.: 1989, Detection of minority point mutations by modified PCR technique: a new approach for a sensitive diagnosis of tumorprogression markers. Nucleic Acids Res 17:8093-8099.
7. Hasegawa D, Yamato O, Kobayashi M, et al.: 2007, Clinical and molecular analysis of GM2 gangliosidosis in two apparent littermate kittens of the domestic cat. J Feline Med Surg 9:232-237.
8. Kanae Y, Endoh D, Yamato O, et al.: 2007, Nonsense mutation of feline b-hexosaminidase b-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats. Res Vet Sci 82:54-60.
9. Lee JCI, Tsai LC, Chen CH, Chang JG: 1996, ABO genotyping by mutagenically separated polymerase chain reaction. Forensic Sci Int 82:227-232.
10. Lockley AK, Bruce JS, Franklin SJ, Bardsley RG: 1996, Use of mutagenically separated PCR for the detection of the mutation associated with porcine stress syndrome. Meat Sci 43:93-97.
11. Martin DR, Krum BK, Varadarajan GS, et al.: 2004, An inversion of 25 base pairs causes feline GM2 gangliosidosis variant. Exp Neurol 187:30-37.
12. Muldoon LL, Neuwelt EA, Pagel MA, Weiss DL: 1994, Characterization of the molecular defect in a feline model for type II GM2-gangliosidosis (Sandhoff disease). Am J Pathol 144:1109-1118.
13. Neuwelt EA, Johnson WG, Blank NK, et al.: 1985, Characterization of a new model of GM2-gangliosidosis (Sandhoff's disease) in Korat cats. J Clin Invest 76:482-490.
14. Rust S, Funke H, Assmann G: 1993, Mutagenically separated PCR (MS-PCR): a highly specific one step procedure for easy mutation detection. Nucleic Acids Res 21:3623-3629.
15. Schluter B, Erren MI, Schotte H, et al.: 2000, The mutagenically separated polymerase chain reaction is a rapid and reliable method for genotyping of the tumour necrosis factor-a promoter polymorphism (2308 G/A). Clin Chim Acta 320:135-138.
16. Tamura S, Tamura Y, Uchida K, et al.: 2010, GM2 gangliosidosis variant 0 (Sandhoff-like disease) in a family of toy poodles. J Vet Intern Med 24:1013-1019.
17. Yamato O, Hayashi D, Satoh H, et al.: 2008, Retrospective diagnosis of feline GM2 gangliosidosis variant 0 (Sandhofflike disease) in Japan: possible spread of mutant allele in the Japanese domestic cat population. J Vet Med Sci 70:813-818.
18. Yamato O, Matsuki N, Satoh H, et al.: 2002, Sandhoff disease in a golden retriever dog. J Inherit Metab Dis 25:319-320.
19. Yamato O, Matsunaga S, Takata K, et al.: 2004, GM2- gangliosidosis variant 0 (Sandhoff-like disease) in a family of Japanese domestic cats. Vet Rec 155:739-744.
20. Zhang L, Dang F, Baba Y: 2003, Microchip electrophoresisbased separation of DNA. J Pharm Biomed Anal 30:1645-1654.