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

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Mizukami, Keijiro ; Yabuki, Akira ; Chang, Hye-Sook ; Uddin, Mohammad Mejbah ; Rahman, Mohammad Mahbubur ; Kushida, Kazuya ; Kohyama, Moeko ; Yamato, Osamu (2013)
  • Publisher: Hindawi Publishing Corporation
  • Journal: Disease Markers, volume 35, issue 6, pages 669-672 (issn: 0278-0240, eissn: 1875-8630)
  • Related identifiers: doi: 10.1155/2013/695918, pmc: PMC3834651
  • Subject: Research Article | R5-920 | Medicine (General) | Article Subject

A single nucleotide substitution (c.-6-180T>G) associated with resistance to phenobarbital therapy has been found in the canine MDR1/ABCB1 gene in Border Collies with idiopathic epilepsy. In the present study, a PCR-restriction fragment length polymorphism assay was developed for genotyping this mutation, and a genotyping survey was carried out in a population of 472 Border Collies in Japan to determine the current allele frequency. The survey demonstrated the frequencies of the T/T wild type, T/G heterozygote, and G/G mutant homozygote to be 60.0%, 30.3%, and 9.8%, respectively, indicating that the frequency of the mutant G allele is extremely high (24.9%) in Border Collies. The results suggest that this high mutation frequency of the mutation is likely to cause a high prevalence of phenobarbital-resistant epilepsy in Border Collies.
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