Frattini Stefano, Polli Michele, Cortellari Matteo, Negro Alessio, Bionda Arianna, Riva Jacopo, Rizzi Rita, Marelli Stefano, Crepaldi Paola
Department of Agricultural and Environmental Sciences-Production Landscape, Agroenergy University of Milan Milan Italy.
Department of Veterinary Medicine University of Milan Milan Italy.
Vet Rec Open. 2021 Aug 19;8(1):e15. doi: 10.1002/vro2.15. eCollection 2021 Dec.
Epidermolysis bullosa (EB) is a hereditary heterogeneous group of mechanobullous disorders caused by mutations in several structural skin proteins observed in both humans and animals. In this work, we report the incidence and the genetic trend of the junctional epidermolysis bullosa (JEB), a major type of EB, in the Italian German Shorthaired Pointer (GSPs) population in a 10 years span.
In this study, we monitored the genetic trend of JEB in the Italian population of the GSPs from 2009 to 2018 in 750 animals. The studied mutation was the insertion (4818+207 ins 6.5 kb) of repetitive satellite DNA within intron 35 of the gene.
Allele frequencies showed a reduction of the mutated (C) allele during the years, with the only exception of 2017, when 13 dogs were diagnosed as carrier for the genetic pathology. A regression logistic analysis was performed, including sex, coat colour and their interaction. Our results showed that there was a statistically significant association with coat colour.
The simplicity and the low cost of the analysis for the detection of this pathology suggests that a deeper identification of carrier dogs will allow better breeding strategies and management, leading to a rapid JEB eradication.
大疱性表皮松解症（EB）是一组遗传性异质性机械性大疱性疾病，由人类和动物中观察到的几种结构性皮肤蛋白的突变引起。在这项工作中，我们报告了10年间意大利德国短毛指示犬（GSPs）群体中主要类型的EB——交界性大疱性表皮松解症（JEB）的发病率和遗传趋势。
在本研究中，我们监测了2009年至2018年期间意大利GSPs群体中750只动物的JEB遗传趋势。所研究的突变是基因第35内含子内重复卫星DNA的插入（4818+207 ins 6.5 kb）。
等位基因频率显示这些年中突变（C）等位基因频率有所下降，2017年是唯一的例外，当年有13只犬被诊断为该遗传疾病的携带者。进行了回归逻辑分析，包括性别、毛色及其相互作用。我们的结果表明，毛色与之存在统计学上的显著关联。
检测这种疾病的分析方法简单且成本低，这表明对携带犬进行更深入的鉴定将有助于制定更好的繁殖策略和管理方法，从而迅速根除JEB。
