High frequency of a single nucleotide substitution (c.-6-180T>G) of the canine MDR1/ABCB1 gene associated with phenobarbital-resistant idiopathic epilepsy in Border Collie dogs.
作者： Keijiro Mizukami , Akira Yabuki , Hye-Sook Chang , Mohammad Mejbah Uddin , Mohammad Mahbubur Rahman
DOI: 10.1155/2013/695918
关键词:
摘要: A single nucleotide substitution (c.-6-180T>G) associated with resistance to phenobarbital therapy has been found in the canine MDR1/ABCB1 gene Border Collies idiopathic epilepsy. In present study, a PCR-restriction fragment length polymorphism assay was developed for genotyping this mutation, and survey carried out population of 472 Japan determine current allele frequency. The demonstrated frequencies T/T wild type, T/G heterozygote, G/G mutant homozygote be 60.0%, 30.3%, 9.8%, respectively, indicating that frequency G is extremely high (24.9%) Collies. results suggest mutation likely cause prevalence phenobarbital-resistant epilepsy
hindawi.com参考文章(15)
Carrie M. Mosher, Michael H. Court, Comparative and veterinary pharmacogenomics Handbook of experimental pharmacology. pp. 49- 77 ,(2010) , 10.1007/978-3-642-10324-7_3
L. Alves, V. Hülsmeyer, A. Jaggy, A. Fischer, T. Leeb, M. Drögemüller, Polymorphisms in the ABCB1 Gene in Phenobarbital Responsive and Resistant Idiopathic Epileptic Border Collies Journal of Veterinary Internal Medicine. ,vol. 25, pp. 484- 489 ,(2011) , 10.1111/J.1939-1676.2011.0718.X
F. Thiebaut, T. Tsuruo, H. Hamada, M. M. Gottesman, I. Pastan, M. C. Willingham, Cellular localization of the multidrug-resistance gene product P-glycoprotein in normal human tissues Proceedings of the National Academy of Sciences of the United States of America. ,vol. 84, pp. 7735- 7738 ,(1987) , 10.1073/PNAS.84.21.7735
Katrina L. Mealey, Steve A. Bentjen, John M. Gay, Glenn H. Cantor, Ivermectin sensitivity in collies is associated with a deletion mutation of the mdr1 gene Pharmacogenetics. ,vol. 11, pp. 727- 733 ,(2001) , 10.1097/00008571-200111000-00012
Keijiro Mizukami, Akira Yabuki, Takuji Kawamichi, Hye-Sook Chang, Mohammad M. Rahman, Mohammad M. Uddin, Moeko Kohyama, Osamu Yamato, Real-time PCR genotyping assay for canine trapped neutrophil syndrome and high frequency of the mutant allele in Border collies. Veterinary Journal. ,vol. 195, pp. 260- 261 ,(2013) , 10.1016/J.TVJL.2012.06.014
V. Hülsmeyer, R. Zimmermann, C. Brauer, C. Sauter-Louis, A. Fischer, Epilepsy in Border Collies: Clinical Manifestation, Outcome, and Mode of Inheritance Journal of Veterinary Internal Medicine. ,vol. 24, pp. 171- 178 ,(2010) , 10.1111/J.1939-1676.2009.0438.X
Holger A. Volk, Dimitrula Arabadzisz, Jean-Marc Fritschy, Claudia Brandt, Kerstin Bethmann, Wolfgang Löscher, Antiepileptic drug-resistant rats differ from drug-responsive rats in hippocampal neurodegeneration and GABAA receptor ligand binding in a model of temporal lobe epilepsy Neurobiology of Disease. ,vol. 21, pp. 633- 646 ,(2006) , 10.1016/J.NBD.2005.09.006
Julie A Johnson, Pharmacogenetics in clinical practice: how far have we come and where are we going? Pharmacogenomics. ,vol. 14, pp. 835- 843 ,(2013) , 10.2217/PGS.13.52
M.F. Fromm, P-glycoprotein: a defense mechanism limiting oral bioavailability and CNS accumulation of drugs. principles and practice of constraint programming. ,vol. 38, pp. 69- 74 ,(2000) , 10.5414/CPP38069
Pascale Quignon, Laetitia Herbin, Edouard Cadieu, Ewen F. Kirkness, Benoit Hédan, Dana S. Mosher, Francis Galibert, Catherine André, Elaine A. Ostrander, Christophe Hitte, Canine Population Structure: Assessment and Impact of Intra-Breed Stratification on SNP-Based Association Studies PLoS ONE. ,vol. 2, pp. e1324- ,(2007) , 10.1371/JOURNAL.PONE.0001324