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纤溶酶原基因大片段缺失与一只马耳他犬的木样结膜炎相关。

A large deletion in the Plasminogen gene is associated with ligneous membranitis in a Maltese dog.

机构信息

Genefast srl, Forlì, 47122, Italy.

Ambulatorio Veterinario Associato Visionvet, San Giovanni in Persiceto, Bologna, 40017, Italy.

出版信息

Anim Genet. 2021 Oct;52(5):767-771. doi: 10.1111/age.13130. Epub 2021 Aug 9.

DOI:10.1111/age.13130
PMID:34370320
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9290685/
Abstract

Ligneous membranitis/conjunctivitis (LM, OMIM 217090) is a hereditary disorder caused by a congenital plasminogen (PLG) deficiency. In veterinary medicine, LM (OMIA 002020-9615) has rarely been reported in Golden Retrievers, Yorkshire Terriers, Doberman Pinschers and Scottish Terriers. In the latter breed, an A>T variation in an intron donor site of the PLG gene (PLG, c.1256+2T>A) has been found to be the sole causative molecular defect reported to date in dogs. Owing to the absence of plasmin enzymatic clearance which in turn depends on the lack of its proenzyme plasminogen, fibrin deposits tend to accumulate in viscous membranes on the eyes, triggering and sustaining an intense inflammatory response. A case of LM was diagnosed in a 7-month-old male Maltese dog. The dog was examined for severe recurrent conjunctivitis. A diagnosis of ligneous conjunctivitis was made by an ophthalmologist after a thorough eye examination and was confirmed by a complete lack of plasma activity of plasminogen. The main local signs were redness of the conjunctiva with persistent membranes having ligneous (wood-like) membranes on the eyes. The disease was associated with a complex rearrangement involving the plasminogen gene loci, causing the complete deletion of exon 1. This study provides a spontaneous animal model for LM associated with complete plasminogen deficiency and provides a method for detecting affected or carrier dogs.

摘要

黏膜性/结膜炎(LM,OMIM 217090)是一种遗传性疾病,由先天性纤溶酶原(PLG)缺乏引起。在兽医医学中,LM(OMIA 002020-9615)在金毛寻回犬、约克夏梗犬、杜宾犬和苏格兰梗犬中很少有报道。在后一种品种中,PLG 基因(PLG,c.1256+2T>A)内含子供体位点的 A>T 变异被发现是迄今为止在犬中唯一报道的致病分子缺陷。由于缺乏纤溶酶酶清除,而纤溶酶酶清除又依赖于其酶原纤溶酶原的缺乏,因此纤维蛋白沉积物往往在眼睛的粘性膜上积聚,引发并维持强烈的炎症反应。一例 7 月龄雄性马尔济斯犬被诊断为 LM。该犬因严重复发性结膜炎而接受检查。眼科医生在彻底的眼部检查后做出了黏膜性结膜炎的诊断,并通过纤溶酶原的血浆活性完全缺乏得到了证实。主要的局部体征是结膜发红,眼睛上有持续的膜,呈木质(木质样)。该疾病与纤溶酶原基因座的复杂重排有关,导致外显子 1 的完全缺失。本研究提供了一种与完全纤溶酶原缺乏相关的 LM 自发性动物模型,并提供了一种检测受影响或携带犬的方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1318/9290685/39732349830c/AGE-52-767-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1318/9290685/48d224452efb/AGE-52-767-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1318/9290685/39732349830c/AGE-52-767-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1318/9290685/48d224452efb/AGE-52-767-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1318/9290685/39732349830c/AGE-52-767-g002.jpg

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本文引用的文献

1
A large deletion in the GP9 gene in Cocker Spaniel dogs with Bernard-Soulier syndrome.大型缺失的 GP9 基因在 Cocker Spaniel 犬伯纳德-苏利耶综合征。
PLoS One. 2019 Sep 4;14(9):e0220625. doi: 10.1371/journal.pone.0220625. eCollection 2019.
2
Amniotic membrane transplantation for ligneous conjunctivitis in a doberman.杜宾犬木样结膜炎的羊膜移植术
Vet Ophthalmol. 2018 Nov;21(6):652-660. doi: 10.1111/vop.12559. Epub 2018 Feb 26.
3
Features and outcome of a glomerulonephropathy associated with ligneous conjunctivitis in a Doberman pinscher dog.
一只杜宾犬中与木样结膜炎相关的肾小球肾炎的特征和转归
Can Vet J. 2016 May;57(5):501-6.
4
Presentation, clinical pathological and post-mortem findings in three related Scottish terriers with ligneous membranitis.三只患有木样膜炎的相关苏格兰梗犬的临床表现、临床病理及尸检结果
J Small Anim Pract. 2016 May;57(5):271-276. doi: 10.1111/jsap.12443. Epub 2016 Feb 3.
5
Ligneous membranitis in Scottish Terriers is associated with a single nucleotide polymorphism in the plasminogen (PLG) gene.苏格兰梗犬的木样膜炎与纤溶酶原(PLG)基因中的单核苷酸多态性有关。
Anim Genet. 2015 Dec;46(6):707-10. doi: 10.1111/age.12339. Epub 2015 Sep 11.
6
New insights into the structure and function of the plasminogen/plasmin system.对纤溶酶原/纤溶酶系统的结构和功能的新认识。
Curr Opin Struct Biol. 2013 Dec;23(6):836-41. doi: 10.1016/j.sbi.2013.10.006. Epub 2013 Nov 16.
7
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8
Ligneous membranitis in Scottish terriers.苏格兰梗犬的木样膜炎。
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9
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