Genotypic and allelic frequencies of progressive rod-cone degeneration and other main variants associated with progressive retinal atrophy in Italian dogs.

IF 1.3 Q2 VETERINARY SCIENCES Veterinary Record Open Pub Date : 2023-11-23 eCollection Date: 2023-12-01 DOI:10.1002/vro2.77
Sara Ghilardi, Mara Bagardi, Stefano Frattini, Giulia E Barbariga, Paola G Brambilla, Giulietta Minozzi, Michele Polli
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Abstract

Background: Progressive retinal atrophy (PRA) is a group of canine inherited retinal disorders affecting up to 100 breeds. Genetic tests are available. The aim of this study was to retrospectively evaluate the genetic variants associated with PRA among dogs residing in Italy.

Methods: Genetic data of 20 variants associated with different forms of PRA were collected through DNA tests over a 10-year period for several dog breeds in the Italian canine population. Allelic and genotypic frequencies were calculated.

Results: A total of 1467 DNA tests were conducted for 1180 dogs. Progressive rod-cone degeneration (PRCD) was the most tested form of PRA, with 58.15% (n = 853) of the DNA tests. Among the widespread breeds in Italy, Labrador retrievers and toy poodles showed a prevalence of heterozygous carriers higher than 15%. Among the others, 175 DNA tests for golden retrievers (GR) showed a prevalence of heterozygous carriers of 13.04% (n = 12) for GR-PRA1 and 8.43% (n = 7) for GR-PRA2. The zwergschnauzer breed was tested for the type B and/or the type B1 forms of PRA with 25.32% (n = 20) heterozygous carriers and 0%, respectively.

Conclusion: The study offers an overview of the prevalence of PRCD and other PRA forms within some of the most popular breeds in Italy.

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意大利犬进行性视网膜萎缩相关的进行性杆状锥体变性和其他主要变异的基因型和等位基因频率
背景:进行性视网膜萎缩(PRA)是一组犬遗传性视网膜疾病,影响多达100个品种。基因测试是可用的。本研究的目的是回顾性评估居住在意大利的狗与PRA相关的遗传变异。方法:通过DNA测试收集了20种与不同形式PRA相关的变异的遗传数据,这些变异是在10年的时间里对意大利犬群中的几个犬种进行的。计算等位基因和基因型频率。结果:共对1180只犬进行了1467次DNA检测。进行性杆状锥体变性(PRCD)是PRA检测最多的形式,占DNA检测的58.15% (n = 853)。在意大利分布广泛的品种中,拉布拉多寻回犬和玩具贵宾犬的杂合携带率高于15%。其中,金毛猎犬(GR) 175份DNA检测显示,GR- pra1杂合携带者的患病率为13.04% (n = 12), GR- pra2杂合携带者的患病率为8.43% (n = 7)。zwergschnauzer品种的B型和/或B1型PRA检出率分别为25.32% (n = 20)和0%。结论:该研究概述了PRCD和其他PRA形式在意大利一些最受欢迎的品种中的流行情况。
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来源期刊
Veterinary Record Open
Veterinary Record Open VETERINARY SCIENCES-
CiteScore
3.00
自引率
0.00%
发文量
25
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.
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