Rapid and reliable genotyping technique for GM1 gangliosidosis in Shiba dogs by real-time polymerase chain reaction with TaqMan minor groove binder probes

Journal of Veterinary Diagnostic Investigation

Volumn 22, Issue 2, 2010, Pages 234-237

  Chang, Hye Sook ^a   Arai, Toshiro ^b   Yabuki, Akira ^a   Hossain, Mohammad A ^a   Rahman, Mohammad M ^a   Mizukami, Keijiro ^a   Yamato, Osamu ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

^b NIPPON VETERINARY AND LIFE SCIENCE UNIVERSITY   (Japan)

Author keywords

GM1 gangliosidosis; Real time polymerase chain reaction; Screening technique; Shiba dogs

Indexed keywords

CANIS FAMILIARIS; ZOYSIA JAPONICA;

EID: 77949340683     PISSN: 10406387     EISSN: None     Source Type: Journal    
DOI: 10.1177/104063871002200210     Document Type: Article

References (13)

1. Baker HJ, Smith BF, Martin DR, Foureman P: 2001, Molecular diagnosis of gangliosidoses: a model for elimination of inherited diseases in pure breeds. In: Consultations in feline internal medicine, ed. August JR, 4th ed., pp. 615-620. WB Saunders, Philadelphia, PA.
2. Joncourt F, Neuhaus B, Jostarndt-Foegen K, et al.: 2004, Rapid identification of female carriers of DMD/BMD by quantitative real-time PCR. Hum Mutat 23:385-391.
3. Kutyavin IV, Afonina IA, Mills A, et al.: 2000, 39-minor groove binder-DNA probes increase sequence specificity at PCR extension temperatures. Nucleic Acids Res 28:655-661.
4. Suzuki Y, Oshima A, Nanba E: 2001, β-Galactosidase deficiency (β-galactosidosis): GM1 gangliosidosis and Morquio B disease. In: The metabolic and molecular bases of inherited disease, ed. Scriver CR, Beaudet AL, Sly WS, et al., 8th ed., pp. 3775-3809.McGraw-Hill, New York, NY.
5. Tizzano EF, Barceló MJ, Baena M, et al.: 2005, Rapid identification of female haemophilia A carriers with deletions in the factor VIII gene by quantitative real-time PCR analysis. Thromb Haemost 94:661-664.
6. Vrettou C, Traeger-Synodinos J, Tzetis M, et al.: 2004, Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis. Hum Mutat 23:513-521.
7. Yamato O, Endoh D, Kobayashi A, et al.: 2002, A novel mutation in the gene for canine acid β-galactosidase that causes GM1-gangliosidosis in Shiba dogs. J Inherit Metab Dis 25:525-526.
8. Yamato O, Funk H, Kawahara N, et al.: 2009, Mutation screening of canine GM1 gangliosidosis for preventive measures: absence of the mutant allele in breeding Shiba dogs in the Czech Republic. Jpn J Prophylactic Vet Med 1:63-68.
9. Yamato O, Jo EO, Chang HS, et al.: 2008, Molecular screening of canine GM1 gangliosidosis using blood smear specimens after prolonged storage: detection of carriers among Shiba dogs in northern Japan. J Vet Diagn Invest 20:68-71.
10. Yamato O, Jo EO, Satoh H, et al.: 2006, Use of amnion and placenta in neonatal screening for canine GM1-gangliosidosis and the risk of diagnostic misclassifications. Vet Clin Pathol 35:91-94.
11. Yamato O, Jo EO, Shoda T, et al.: 2004, Rapid and simple mutation screening of GM1-gangliosidosis in Shiba dogs by direct amplification of deoxyribonucleic acid from various forms of canine whole-blood specimens. J Vet Diagn Invest 16:469-472.
12. Yamato O, Kobayashi A, Satoh H, et al.: 2004, Comparison of polymerase chain reaction-restriction fragment length polymorphism assay and enzyme assay for diagnosis of GM1-gangliosidosis in Shiba dogs. J Vet Diagn Invest 16:299-304.
13. Yamato O, Ochiai K, Masuoka Y, et al.: 2000, GM1 gangliosidosis in Shiba dogs. Vet Rec 146:493-496.