土耳其首例遗传证实的致命性肢端皮炎牛头梗病例

IF 0.7 4区 农林科学 Q3 VETERINARY SCIENCES Ankara Universitesi Veteriner Fakultesi Dergisi Pub Date : 2022-10-26 DOI:10.33988/auvfd.1153036
Furkan Kutlu, N. Bilgen
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引用次数: 0

摘要

致死性肢端皮炎(LAD)是一种影响牛头梗和微型牛头梗的罕见疾病,其特征是生长不良,进行性皮肤损伤和免疫缺陷。确定了一种Muskelin 1 (MKLN1)基因突变为LAD的致病突变,并建立了一种患病犬的基因检测方法。将一只表现出与LAD相似症状的牛头梗送到诊所,并采集血液样本进行基因检测。提取DNA,直接突变筛选证实致病突变为MKLN1: C. 400+3A>C。由于病情的严重进展和缺乏可用的治疗,我们被告知病人已被实施安乐死。这是土耳其首次报道的LAD病例,根据我们的发现,我们强烈建议饲主和育种者在育种前进行基因检测,以减少并最终从种群中根除这种突变。
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First Genetically Confirmed Case of Lethal Acrodermatitis in a Bull Terrier in Turkiye
Lethal acrodermatitis (LAD) is a rare disease affecting bull terriers and miniature bull terriers characterized by poor growth, progressive skin lesions and immunodeficiency. A mutation in the Muskelin 1 (MKLN1) gene was determined as the causative mutation for LAD, and a genetic testing method for affected dogs has been established. A bull terrier representing symptoms similar to those of LAD was submitted to clinics, and a blood sample was taken for genetic testing. DNA was extracted, and direct mutation screening confirmed the causative mutation MKLN1:c.400+3A>C. Due to the severe progression of the disease and lack of available treatment, we have been informed that the patient was euthanised. This is the first report case of LAD from Turkiye, and based on our findings, we heavily suggest that owners and breeders should implement genetic testing before breeding to reduce and eventually eradicate this mutation from the population.
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来源期刊
CiteScore
1.50
自引率
0.00%
发文量
44
审稿时长
6-12 weeks
期刊介绍: Ankara Üniversitesi Veteriner Fakültesi Dergisi is one of the journals’ of Ankara University, which is the first well-established university in the Republic of Turkey. Research articles, short communications, case reports, letter to editor and invited review articles are published on all aspects of veterinary medicine and animal science. The journal is published on a quarterly since 1954 and indexing in Science Citation Index-Expanded (SCI-Exp) since April 2007.
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