![]() The frequency of the equine cerebellar abiotrophy mutation in non-Arabian horse breeds. Purkinje Cell Apoptosis in Arabian Horses with Cerebellar Abiotrophy. Abiotrophy in domestic animals: A review. Neurodegenerative diseases in domestic animals: A comparative review. Morphometric description of Algerian Arab-Barb horse. Genome Diversity and the Origin of the Arabian Horse. The horse Y chromosome as an informative marker for tracing sire lines. The Introduction of the Domesticated Horse in Southwest Asia. Ancient Genomes Reveal Unexpected Horse Domestication and Management Dynamics. Tracking Five Millennia of Horse Management with Extensive Ancient Genome Time Series. The Earliest Horse Harnessing and Milking. The authors declare no conflict of interest. Reveal the number of horses in each genotype group and the percentage of each genotype/allele, 2.8% of the investigated horses (5 Arabian horses) were heterozygous for the rs397160943 SNP in TOE1 gene at ECA2 with allele frequency of 0.1%, and no homozygous-affected horses for the mutation were identified ( Table 2). Therefore, crossing two carriers results in 25% affected foals in the population. The genetic mutation responsible for the disorder would be a single nucleotide polymorphism (SNP) located in exon 4 of TOE1 gene (Target Of Early Growth Response 1) on equine chromosome 2, resulting in the incorporation of arginine instead of histidine at this position. CA has an autosomal recessive mode of inheritance. CA clinical symptoms usually are developed dramatically between the age of 6 weeks and 4 months, represented mainly by ataxia, hypermetria, intention head tremors, and the absence of a menace response. However, the probability of CA mutation occurrence is present in other Arabian-cross horse breeds. It has been demonstrated that CA is recognised almost exclusively in the Arabian horse breed. Cerebellar Abiotrophy (CA), is a progressive neurological disease characterised by the degeneration of cerebellar Purkinje cells, and it is likely caused by an intrinsic metabolic disorder, which affects many animal species. These disorders are mainly responsible for foal losses and significant economic losses due to the treatments and maintenance costs during pregnancy and breeding. Genetic disorders can have a dramatic impact on horse’s breeding. Without suspicion of disease, there was no reason to order blood tests. Therefore, the veterinarian claims all animals involved in study as healthy. None of the horses showed signs of loss of feeling or hypersensitivity to light touch or pinpricking, and loss of muscle mass. For evaluation of neck and front legs there were no evidence of pain, loss of muscle tone or cramp in the neck. ![]() None of the horses showed any signs of dysfunction within gait evaluation like circling, weakness or complete paralysis of any limbs, falling, stumbling, rolling, or loss of coordination. None of the horse showed signs of lowering reflexes of the head deterioration, constant pacing, seizures, a head turn or circling in one direction or other unusual head movements. The neurologic examination evaluates (1) the cranial nerves, (2) the gait, or walk, (3) the neck and front legs, and (4) the torso, hind legs, anus, and tail. Horses were checked clinically by a veterinarian. The samples collected were preserved in an individually labelled paper envelope stored at room temperature until use for genetic disorders screen. Thirty hairs 7 cm long were pulled out at the root of the neck or tail skin. Follicle hair samples from purebred Arabian ( n = 80), Barb ( n = 41) and Arab-Barb horses ( n = 56) were used in this study. ![]() This investigation shows the importance of testing these breeds for genetic disorders to avoid further spread of deleterious variantsĪ total of 177 horses were chosen randomly and investigated for each of the three genetic disorders. The SCID-deletion TCTCA within PRKDC was detected in ten horses (nine Arabian horses and one Arab-Barb horse). Overall, presented data showed that 15 of the studied horses are carriers of two genetic disorders the investigated horse population showed that five Arabian horses were heterozygous for the CA-associated SNP (rs397160943). We identified the genetic variations related to Cerebellar Abiotrophy (CA), Severe Combined Immunodeficiency (SCID) occurrence, and the studied population was free of the mutant allele determined Lavender Foal Syndrome (LFS). Here we studied a total of 177 Arabian, Barb and Arab-Barb horses from the Middle East and North Africa (MENA) using Sanger Sequencing and PCR-ACRS (polymerase chain reaction-artificially created restriction site) approaches to examine the genetic disorders in the studied horse breeds. Genetic disorders in horses are mostly fatal or usually cause significant economic losses for breeders and owners.
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