Abstract
The horse has a history intimately linked to that of many societies, it is a cultural heritage and the genetic preservation of this species has undertaken an enormous progress since the 90s. The emergence of certain fatal hereditary diseases in horses, caused by the appearance of genetic mutations, has made the use of screening by molecular tests a decisive step in establishing rational management of breeding. Considering the revolution in molecular biology, the new development of the complete sequencing of the horse genome and the development of genotyping, several genes that determine biological phenomena have been highlighted and several genetic mutations causing phenotypic disturbances have been identified. Thus, this review focuses on genetic diseases of the horse for which different types of mutations have been recognized and identified, including severe combined immunodeficiency of the Arabian horse (SCID), Cerebellar Abiotrophy (CA), Lavender Foal Syndrome (LFS), Occipito-Atlanto-Axial Malformation (OAAM), Warmblood Fragile Foal Syndrome (WFFS), Polysaccharide storage myopathy (PSSM), and Junctional Epidermal Bullosa (JEB). The emphasis was put on the etiology, clinical signs, diagnosis and prevalence of each genetic disease.
Keyword: Genotyping, Sequencing, NGS, SNP, Genetic diseases, Horses