Molecular screening for the mutation associated with canine degenerative myelopathy (SOD1:c.118G > A) in German Shepherd dogs in Brazil.
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 tran...
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2020-01-01
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| Series: | PLoS ONE |
| Online Access: | https://doi.org/10.1371/journal.pone.0242347 |
| _version_ | 1819124779529011200 |
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| author | Cássia Regina Oliveira Santos João José de Simoni Gouveia Gisele Veneroni Gouveia Flávia Caroline Moreira Bezerra Joel Fonseca Nogueira Durval Baraúna Júnior |
| author_facet | Cássia Regina Oliveira Santos João José de Simoni Gouveia Gisele Veneroni Gouveia Flávia Caroline Moreira Bezerra Joel Fonseca Nogueira Durval Baraúna Júnior |
| author_sort | Cássia Regina Oliveira Santos |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-22T07:29:40Z |
| format | Article |
| id | doaj.art-f22d856071db4d6d86616d1bb79cc119 |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-12-22T07:29:40Z |
| publishDate | 2020-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-f22d856071db4d6d86616d1bb79cc1192022-12-21T18:34:04ZengPublic Library of Science (PLoS)PLoS ONE1932-62032020-01-011511e024234710.1371/journal.pone.0242347Molecular screening for the mutation associated with canine degenerative myelopathy (SOD1:c.118G > A) in German Shepherd dogs in Brazil.Cássia Regina Oliveira SantosJoão José de Simoni GouveiaGisele Veneroni GouveiaFlávia Caroline Moreira BezerraJoel Fonseca NogueiraDurval Baraúna JúniorCanine 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.https://doi.org/10.1371/journal.pone.0242347 |
| spellingShingle | Cássia Regina Oliveira Santos João José de Simoni Gouveia Gisele Veneroni Gouveia Flávia Caroline Moreira Bezerra Joel Fonseca Nogueira Durval Baraúna Júnior Molecular screening for the mutation associated with canine degenerative myelopathy (SOD1:c.118G > A) in German Shepherd dogs in Brazil. PLoS ONE |
| title | Molecular screening for the mutation associated with canine degenerative myelopathy (SOD1:c.118G > A) in German Shepherd dogs in Brazil. |
| title_full | Molecular screening for the mutation associated with canine degenerative myelopathy (SOD1:c.118G > A) in German Shepherd dogs in Brazil. |
| title_fullStr | Molecular screening for the mutation associated with canine degenerative myelopathy (SOD1:c.118G > A) in German Shepherd dogs in Brazil. |
| title_full_unstemmed | Molecular screening for the mutation associated with canine degenerative myelopathy (SOD1:c.118G > A) in German Shepherd dogs in Brazil. |
| title_short | Molecular screening for the mutation associated with canine degenerative myelopathy (SOD1:c.118G > A) in German Shepherd dogs in Brazil. |
| title_sort | molecular screening for the mutation associated with canine degenerative myelopathy sod1 c 118g a in german shepherd dogs in brazil |
| url | https://doi.org/10.1371/journal.pone.0242347 |
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