TY - JOUR
TI - Allele and genotype frequencies of the SOD1 gene polymorphism associated with canine degenerative myelopathy in Belgian Malinois dogs in Greece
AU - Mataragka, A.
AU - Ikonomopoulos, J.
AU - Zervas, G.S.
AU - Vamvakidis, C.D.
AU - Tzimotoudis, N.
AU - Hager-Theodorides, A.L.
AU - Gazouli, M.
AU - Kominakis, A.
JO - Veterinary World
PY - 2021
VL - 14
TODO - 6
SP - 1472-1479
PB - Veterinary World
SN - null
TODO - 10.14202/vetworld.2021.1472-1479
TODO - copper zinc superoxide dismutase;  genomic DNA;  restriction endonuclease, agar gel electrophoresis;  allele;  Article;  biochemical analysis;  blood analysis;  case control study;  controlled study;  degenerative disease;  disease exacerbation;  DNA isolation;  DNA polymorphism;  dog;  follow up;  gene;  gene frequency;  gene mutation;  genetic analysis;  genetic selection;  genetic variability;  genotype;  heterozygosity;  homozygosity;  image analysis;  immune response;  jugular vein;  leishmaniasis;  medical record;  monitoring;  nonhuman;  pathogenesis;  polymerase chain reaction;  polymerase chain reaction restriction fragment length polymorphism;  restriction fragment length polymorphism;  sequence analysis;  single nucleotide polymorphism;  SOD1 gene;  spectrophotometry;  spinal cord disease;  thorax radiography
TODO - 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: Τhe 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. Copyright: Mataragka, et al. Open Access. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
ER -