Soussa R W, Woodward A, Marty M, Cannon C M
Internal Medicine Department, Southpaws Specialty Surgery for Animals, Moorabbin, Victoria, 3189, Australia.
Faculty of Veterinary and Agricultural Sciences, The University of Melbourne, Werribee, Victoria, 3030, Australia.
Aust Vet J. 2020 Mar;98(3):79-83. doi: 10.1111/avj.12896. Epub 2019 Nov 19.
The ABCB1 gene encodes P-glycoprotein (P-gp), a cellular membrane pump. One functional mutation that leads to expression of a less functional form of P-gp, ABCB1-1Δ, has been described in dogs. Individuals with this mutation can have severe adverse reactions to common veterinary pharmaceuticals that are known substrates of this pump. We investigated the detection of this mutation in samples submitted to two Australian diagnostic laboratories.
A total of 4842 dogs across 27 breeds were tested for the ABCB1-1Δ mutation from buccal swabs or EDTA blood using standard PCR, multiplex PCR, or genotyping chip. Statistical analysis was applied to determine the proportions and odds ratios of the ABCB1-1Δ mutation in herding breeds compared with non-herding breeds.
The ABCB1-1Δ mutation was detected in nine breeds. The most commonly affected breeds were collies, Australian shepherds, white Swiss shepherds, and Shetland sheepdogs. Of 32 dogs in 18 non-herding breeds tested, one cocker spaniel and one labradoodle were positive for the mutation, both heterozygous.
The most frequently affected breeds for ABCB1-1Δ mutation are the collie, Australian shepherd, white Swiss shepherd and Shetland sheepdog. As the mutation is associated with an increased incidence of adverse reactions to commonly used pharmaceuticals, veterinarians need to be aware of the breeds at most risk of carrying this mutation and consider testing these individuals prior to administering these medications.
ABCB1基因编码一种细胞膜泵——P-糖蛋白（P-gp）。在犬类中已发现一种功能性突变，该突变导致产生功能较弱的P-gp形式ABCB1-1Δ。携带这种突变的个体可能会对作为该泵已知底物的常见兽用药物产生严重不良反应。我们对提交给两家澳大利亚诊断实验室的样本中该突变的检测情况进行了调查。
使用标准PCR、多重PCR或基因分型芯片，对来自27个品种的总共4842只犬的口腔拭子或乙二胺四乙酸（EDTA）抗凝血样本进行ABCB1-1Δ突变检测。应用统计分析来确定与非放牧品种相比，放牧品种中ABCB1-1Δ突变的比例和优势比。
在9个品种中检测到ABCB1-1Δ突变。受影响最常见的品种是柯利犬、澳大利亚牧羊犬、瑞士白牧羊犬和设得兰牧羊犬。在测试的18个非放牧品种的32只犬中，一只可卡犬和一只拉布拉多贵宾犬杂交犬的突变检测呈阳性，均为杂合子。
ABCB1-1Δ突变受影响最频繁的品种是柯利犬、澳大利亚牧羊犬、瑞士白牧羊犬和设得兰牧羊犬。由于该突变与常用药物不良反应发生率增加相关，兽医需要了解携带这种突变风险最高的品种，并在给这些个体使用这些药物之前考虑进行检测。
