A genetic study of a SOD1 missense mutation in Czechoslovakian Wolfdog

Jakabová, D.; Chlebovcová, Patrícia; Genčík, Martin

doi:10.15414/afz.2016.19.si.111-113

Cited by 3 publications

(2 citation statements)

References 5 publications

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“…The heterozygosity and homozygosity rates observed were similar to those previously recorded in the same breed (0.25 vs. 0–0.17 and 0.04 vs. 0–0.06 for heterozygosity and homozygosity, respectively) [ 9 , 18 - 20 ] and other breeds (Airedale Terrier, American Hairless Terrier, Beagle, Belgian Sheepdog, Borzoi, Boxer, Boykin, Chow Chow, Spaniel, and Kuvasz) ( Table-2 ) [ 6 - 9 , 18 - 24 ].…”

Section: Discussionsupporting

confidence: 88%

Allele and genotype frequencies of the SOD1 gene polymorphism associated with canine degenerative myelopathy in Belgian Malinois dogs in Greece

et al. 2021

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Background and Aim: Canine degenerative myelopathy (CDM) is an adult-onset fatal disorder associated with a point mutation of the superoxide dismutase 1 (SOD1) gene (SOD1:c.118G>A). This study aimed to determine the allele and genotype frequencies of this mutation in a group of Belgian Malinois dogs in Greece. Materials and Methods: Samples (n=72) of whole blood were collected from 72 purebred dogs of the Hellenic Armed Forces; these samples were processed for DNA isolation, polymerase chain reaction, and digestion with the restriction endonuclease AcuI. Sample testing was conducted in compliance with ISO17025 accreditation requirements. Results: The observed relative genotype frequencies were 71% for the homozygous (GG), 25% for the heterozygous (AG), and 4% for the homozygous mutant (AA) alleles. These frequencies were close to those expected, indicating no significant departure from Hardy–Weinberg equilibrium (HWE, p=0.395). The frequency of heterozygous animals indicates that a high risk of developing CDM in forthcoming generations exists in the tested population because mating among carriers would result in 25% AA progeny. The medical record of the group of study animals indicated selection against leishmaniosis, as applied throughout generations by owners and breeders. The potential association of this selection with the HWE status of the study population was discussed. Conclusion: The SOD1:c.118G>A mutation was common in the tested group of dogs; thus, they are suitable for a follow-up investigation on the development and progression of CDM. A case-control study on animals with evidence of sensitivity to infectious myelopathy could provide new insights into disease pathogenesis.

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Section: Discussionsupporting

confidence: 88%

Allele and genotype frequencies of the SOD1 gene polymorphism associated with canine degenerative myelopathy in Belgian Malinois dogs in Greece

et al. 2021

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“…As stated in Table S1 , Zeng et al [ 22 ] identified the mutant allele frequency as 0.3400. Another study conducted in Slovakia on 54 Czechoslovakian Wolfdogs showed an allele frequency of 0.2500 [ 25 ]. This relatively high mutant allele frequency may be attributed to the relatedness of the Czechoslovakian Wolfdog to the German Shepherd.…”

Section: Discussionmentioning

confidence: 99%

Molecular Surveillance of Canine Degenerative Myelopathy in Breeding Kennels from Romania

Cocostîrc

Paştiu

Doboși

et al. 2023

Animals

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Canine degenerative myelopathy (CDM) is a spontaneous neurodegenerative disease. Genetically, CDM is an autosomal recessive disease with incomplete penetrance, most commonly caused by a genetic mutation in exon 2 of gene SOD1 (c.118G > A). This study aimed to determine the mutant allele frequency associated with CDM in various dog breeds from Romania. Dogs (n = 230) from 26 breeds were included in the study. Genotyping using the PCR-RFLP technique was performed on DNA extracted from oral swabs. The results revealed that 204 dogs were homozygous for the wild-type allele (G/G), 16 were heterozygous (A/G), and 10 were homozygous for the mutant allele (A/A). The mutant allele was identified in Wire Fox Terrier, Romanian Mioritic Shepherd, German Shepherd, Rottweiler, Belgian Shepherd, and Czechoslovakian Wolfdog breeds. The mutant allele frequency (A) within the tested population was 0.0783. The results for Belgian Shepherd, German Shepherd, and Romanian Mioritic Shepherd were in Hardy–Weinberg equilibrium, but a departure was observed for Rottweiler. The current study included a first screening of the Romanian Bucovina Shepherd, Romanian Mioritic Shepherd, and Caucasian Shepherd breeds. Genetic testing for the mutation associated with CDM is important in order to avoid the risk of the emergence of dogs homozygous for the SOD1:c118G > A allele.

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Prevalence of SOD1 allele associated with degenerative myelopathy in canine population in Greece

Kountourantzis,

Minoudi,

Karaiskou

et al. 2023

Research in Veterinary Science

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A genetic study of a SOD1 missense mutation in Czechoslovakian Wolfdog

Cited by 3 publications

References 5 publications

Allele and genotype frequencies of the SOD1 gene polymorphism associated with canine degenerative myelopathy in Belgian Malinois dogs in Greece

Allele and genotype frequencies of the SOD1 gene polymorphism associated with canine degenerative myelopathy in Belgian Malinois dogs in Greece

Molecular Surveillance of Canine Degenerative Myelopathy in Breeding Kennels from Romania

Prevalence of SOD1 allele associated with degenerative myelopathy in canine population in Greece

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