Genetic trend of the junctional epidermolysis bullosa in the German shorthaired pointer in Italy.

IF 1.3 Q2 VETERINARY SCIENCES

Veterinary Record Open Pub Date : 2021-08-19 eCollection Date: 2021-12-01 DOI:10.1002/vro2.15

Stefano Frattini, Michele Polli, Matteo Cortellari, Alessio Negro, Arianna Bionda, Jacopo Riva, Rita Rizzi, Stefano Marelli, Paola Crepaldi

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Abstract

Background: 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.

Methods: 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 LAMA3 gene.

Results: 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.

Conclusions: 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.

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意大利德国短毛猎犬交界性表皮松解症的遗传趋势。

背景：大疱性表皮松解症（Epidermolysis bullosa，EB）是一类遗传性机械性大疱性皮肤病，是由人类和动物体内的几种皮肤结构蛋白突变引起的。在这项研究中，我们报告了交界性表皮松解症（JEB）的发病率和遗传趋势：在这项研究中，我们对 2009 年至 2018 年期间意大利 GSP 种群中 750 只动物的 JEB 遗传趋势进行了监测。研究的突变是LAMA3基因内含子35中重复卫星DNA的插入（4818+207 ins 6.5 kb）：等位基因频率显示，变异（C）等位基因在这几年有所减少，只有2017年例外，当时有13只狗被诊断为遗传病携带者。我们进行了回归逻辑分析，包括性别、毛色及其交互作用。结果表明，毛色与遗传病有显著的统计学关联：这种病理检测分析方法简单且成本低廉，这表明，对携带者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。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Veterinary Record Open VETERINARY SCIENCES-

CiteScore

3.00

自引率

0.00%

发文量

审稿时长

19 weeks

期刊介绍： Veterinary Record Open is a journal dedicated to publishing specialist veterinary research across a range of topic areas including those of a more niche and specialist nature to that considered in the weekly Vet Record. Research from all disciplines of veterinary interest will be considered. It is an Open Access journal of the British Veterinary Association.