Open AccessMolecular screening for the mutation associated with canine degenerative myelopathy (SOD1:c.118G > A) in German Shepherd dogs in Brazil
Author(s) -
Carmina Silva dos Santos,
João José de Simoni Gouveia,
Gisele Veneroni Gouveia,
Flávia Caroline Moreira Bezerra,
Joel Fonseca Nogueira,
Durval Baraúna Júnior
Publication year - 2020
Publication title -
plos one
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.99
H-Index - 332
ISSN - 1932-6203
DOI - 10.1371/journal.pone.0242347
Subject(s) - genotype , exon , sod1 , genotyping , genetics , allele , mutation , haplotype , population , allele frequency , biology , medicine , gene , mutant , environmental health
Canine Degenerative Myelopathy is a late onset recessive autosomal disease characterized by a progressive ascending degeneration of the spinal cord. Two causal mutations are associated with this disease: a transition ( c . 118G>A ) in exon 2 of the SOD1 that was described in several breeds and a transversion ( c . 52A>T ) in exon 1 of the same gene described in Bernese Mountain dogs. The aim of this study was to understand the impact of the SOD1 : c . 118G > A mutation by genotyping a population of German Shepherd dogs in Brazil. A PCR-RFLP approach was used to genotype 97 healthy individuals belonging from the Northeast (Bahia and Pernambuco states) and South (Santa Catarina state) regions of Brazil. A total of 95 individuals were successfully genotyped resulting in an observed genotype frequency (with 95% confidence interval) of: 0.758 (0.672–0.844), 0.242 (0.156–0.328) and 0.000 (0.000–0.000) for “ GG ”, “ AG ” and “ AA ” genotypes, respectively. To our knowledge, this is the first attempt to describe the presence of the “ A ” allele associated with CDM ( SOD1 : c . 118G > A ) in German Shepherd dogs in Brazil and, as such, these results contribute toward important epidemiological data in this country and to the knowledge of the distribution of the aforementioned mutation worldwide.