Bučan Jaroslav, Holečková Beáta, Galdíková Martina, Halušková Jana, Schwarzbacherová Viera
Department of Biology and Physiology, University of Veterinary Medicine and Pharmacy in Košice, Komenského 73, 04181 Košice, Slovakia.
Genes (Basel). 2025 Apr 23;16(5):474. doi: 10.3390/genes16050474.
Two hereditary eye disorders that are frequently observed in Collies and related breeds are Collie Eye Anomaly (CEA) and Progressive Retinal Atrophy (PRA). The main symptom of CEA is choroidal hypoplasia. It is associated with a 7.8 kb deletion in intron 4 of the gene located on chromosome CFA7. Rod-cone dysplasia 3 (RCD3), an early-onset form of PRA, is associated with mutations in the gene.
Molecular diagnostic techniques were used in this study to identify genetic mutations linked to CEA and RCD3-type PRA in a subset of dog breeds. Australian Shepherds (n = 29), Border Collies (n = 9), Longhaired Collies (n = 27), and Shetland Sheepdogs (n = 10) provided a total of 75 DNA samples. Samples were collected by buccal swab or blood draw, and PCR and real-time PCR methods were used for processing.
Of the dogs in the studied breeds, 31 had the gene mutation linked to CEA. Among these, 15 were homozygous recessive (affected), while 16 were heterozygous (carriers). None of the samples had any mutations in the gene associated with RCD3-type PRA.
Effective identification of carriers and affected individuals for CEA was made possible by PCR-based genetic testing, confirming its value in early diagnosis and breed control. Although the RCD3 form of PRA has not been previously reported in Collies or Australian Shepherds, it was included in our analysis due to the genetic relatedness among herding breeds and the potential presence of undetected carriers resulting from historical crossbreeding.
在柯利犬及相关品种中经常观察到的两种遗传性眼部疾病是柯利犬眼异常（CEA）和进行性视网膜萎缩（PRA）。CEA的主要症状是脉络膜发育不全。它与位于CFA7染色体上的基因第4内含子中的7.8 kb缺失有关。视锥视杆细胞营养不良3型（RCD3）是PRA的一种早发型形式，与该基因的突变有关。
本研究使用分子诊断技术来鉴定一组犬种中与CEA和RCD3型PRA相关的基因突变。澳大利亚牧羊犬（n = 29）、边境牧羊犬（n = 9）、长毛柯利犬（n = 27）和设得兰牧羊犬（n = 10）共提供了75份DNA样本。通过口腔拭子或采血收集样本，并使用PCR和实时PCR方法进行处理。
在所研究品种的犬中，31只携带与CEA相关的基因突变。其中，15只为纯合隐性（患病），16只为杂合子（携带者）。所有样本均未在与RCD3型PRA相关的基因中发现任何突变。
基于PCR的基因检测能够有效识别CEA的携带者和患病个体，证实了其在早期诊断和品种控制中的价值。虽然PRA的RCD3形式此前尚未在柯利犬或澳大利亚牧羊犬中报道，但由于放牧品种之间的遗传相关性以及历史杂交导致未检测到的携带者可能存在，我们将其纳入了分析。
