Ainsworth Stuart, Carter Stuart, Fisher Claire, Dawson Jenna, Makrides Loria, Nuttall Tim, Mason Sarah L
Department of Infection Biology, Institute of Infection and Global Health, University of Liverpool, ic2 Building, Liverpool, L3 5RF, UK.
Royal (Dick) School of Veterinary Studies, University of Edinburgh, Easter Bush Campus, Roslin, EH25 9RG, UK.
Anim Genet. 2015 Dec;46(6):707-10. doi: 10.1111/age.12339. Epub 2015 Sep 11.
Ligneous membranitis (LM) is a rare chronic inflammatory condition of the mucous membranes associated with plasminogen (encoded by PLG) deficiency in affected humans and dogs. In human, the condition is genetic in nature with numerous mutations and polymorphisms in PLG identified in affected individuals and related family members. The condition is uncommonly reported in dogs and, to date, no genetic studies have been performed. We identified related Scottish Terriers (littermates) with severe LM and unaffected relatives (sire, dam and a sibling from a previous litter). Plasma plasminogen activity was below normal in one affected dog but within normal reference intervals for the other. Sequencing of PLG from the affected dogs revealed a homozygous A>T single nucleotide polymorphism in an intron donor site (c.1256+2T>A). The related, unaffected dogs displayed heterozygous alleles at this position (c.1256+2T/A), whereas no mutation was detected in unaffected, non-related control dogs. This is the first report to identify gene polymorphisms associated with LM in dogs.
木质化膜炎（LM）是一种罕见的慢性黏膜炎症性疾病，与受影响的人类和犬类的纤溶酶原（由PLG编码）缺乏有关。在人类中，这种疾病本质上是遗传性的，在受影响的个体和相关家庭成员中发现了PLG的众多突变和多态性。这种疾病在犬类中很少有报道，迄今为止，尚未进行过遗传学研究。我们鉴定出了患有严重LM的相关苏格兰梗犬（同窝幼犬）和未受影响的亲属（父犬、母犬以及之前一窝的一只同胞犬）。一只受影响犬的血浆纤溶酶原活性低于正常水平，但另一只受影响犬的血浆纤溶酶原活性在正常参考区间内。对受影响犬的PLG进行测序后发现，在内含子供体位点存在一个纯合的A>T单核苷酸多态性（c.1256+2T>A）。相关的未受影响犬在该位置表现为杂合等位基因（c.1256+2T/A），而在未受影响的非相关对照犬中未检测到突变。这是首次报道在犬类中鉴定出与LM相关的基因多态性。
