Abstract:
: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.
journal_name
Anim Genetjournal_title
Animal geneticsauthors
Ainsworth S,Carter S,Fisher C,Dawson J,Makrides L,Nuttall T,Mason SLdoi
10.1111/age.12339subject
Has Abstractpub_date
2015-12-01 00:00:00pages
707-10issue
6eissn
0268-9146issn
1365-2052journal_volume
46pub_type
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