Lee Chang-Min, Han Jae-Ik, Kang Min-Hee, Kim Seung-Gon, Park Hee-Myung
Department of Veterinary Internal Medicine, College of Veterinary Medicine, Konkuk University, Seoul 05030, Korea.
Laboratory of Wildlife Diseases, College of Veterinary Medicine, Chonbuk National University, Iksan 54596, Korea.
J Vet Sci. 2018 Jan 31;19(1):129-135. doi: 10.4142/jvs.2018.19.1.129.
Degenerative mitral valve disease (DMVD) is the most commonly acquired cardiac disease in dogs. This study evaluated the relationship between genetic variations in the serotonin transporter (SERT) gene of Maltese dogs and DMVD. Genomic DNA was extracted from blood samples collected from 20 client-owned DMVD Maltese dogs and 10 healthy control dogs, and each exon of the SERT gene was amplified via polymerase chain reaction. The resulting genetic sequences were aligned and analyzed for variations by comparing with reference sequences; the predicted secondary structures of these variations were modeled and cross-verified by applying computational methods. Genetic variations, including five nonsynonymous genetic variations, were detected in five exons. Protein structure and function of the five nonsynonymous genetic variations were predicted. Three of the five polymorphisms were predicted to be probable causes of damage to protein function and confirmed by protein structure model verification. This study identified six polymorphisms of the SERT gene in Maltese dogs with DMVD, suggesting an association between the SERT gene and canine DMVD. This is the first study of SERT mutation in Maltese dogs with DMVD and is considered a pilot study into clinical genetic examination for early DMVD diagnosis.
退行性二尖瓣疾病（DMVD）是犬类最常见的后天性心脏病。本研究评估了马尔济斯犬血清素转运体（SERT）基因的遗传变异与DMVD之间的关系。从20只客户拥有的患有DMVD的马尔济斯犬和10只健康对照犬采集的血液样本中提取基因组DNA，并通过聚合酶链反应扩增SERT基因的每个外显子。将所得的基因序列进行比对，并与参考序列比较分析变异；通过应用计算方法对这些变异的预测二级结构进行建模和交叉验证。在五个外显子中检测到包括五个非同义遗传变异在内的遗传变异。预测了五个非同义遗传变异的蛋白质结构和功能。五个多态性中有三个被预测可能是蛋白质功能受损的原因，并通过蛋白质结构模型验证得到证实。本研究鉴定了患有DMVD的马尔济斯犬中SERT基因的六个多态性，表明SERT基因与犬类DMVD之间存在关联。这是首次对患有DMVD的马尔济斯犬进行SERT突变研究，被认为是早期DMVD诊断临床基因检测的一项初步研究。
