Genetics of inheritable diseases in cat (Felis catus)

V diplomskem delu je predstavljeno ozadje genetskih bolezni in anomalij, ki se pojavljajo pri pasemskih ter nepasemskih mačkah. Opisani so tudi izvor domače mačke, razvoj pasem, evolucijske prilagoditve genoma, vpliv inbridinga v populacijah mačk ter diagnostika dednih bolezni. Domače mačke izvirajo iz vsaj petih rodov divjih mačk z območja Bližnjega vzhoda. Pasme mačk izvirajo iz štirih genetsko ločenih populacij nepasemskih mačk, in sicer iz evropske, vzhodne mediteranske, arabske obmorske ter južno-azijske. Posledice delovanja evolucije na genom mačke se kažejo s povečanjem števila genov, povezanih z metabolizmom maščob, ostrino vida in sluha. V primerjavi s psi se je pri mačkah repertoar olfaktornih genov skrčil, repertoar vomeronazalnih genov pa se je razširil. Hipertrofična kardiomiopatija (HCM), ki se pojavlja pri pasmi maine coon in policistična bolezen ledvic (PKD), ki se pojavlja pri perzijkah, sta zelo pogosti genetski bolezni. Brahicefalija je najpogostejša genetsko pogojena anomalija v populacijah pasemskih mačk. Pri določenih pasmah (burmanke, perzijke) je brahicefalija zaželena lastnost, na podlagi katere odbirajo živali za vzrejo. Pri nepasemskih mačkah so dedne bolezni redke in se pojavljajo posamično. Manjša pojavnost dednih bolezni pri nepasemskih mačkah je posledica manjšega inbridinga (parjenja v sorodstvu), torej bi morala biti pri pasmah z visoko stopnjo inbridinga pozornost usmerjena na povečanje genetske pestrosti.In this B. Sc. Thesis the background of genetic diseases and anomalies that occur in purebred and random bred cats is presented. Also the origin of the domestic cat, the development of the breeds, the evolutionary adaptations of the genome, the influence of inbreeding in cat populations, and the diagnostics of hereditary diseases are described. Domestic cats descended from at least five lineages of wild cats from the Middle East area. Cat breeds are derived from four genetically distinct populations of random bred cats, namely European, Eastern Mediterranean, Arabian coastal and South Asian. The effects of evolution on the cat genome are manifested by an increase in the number of genes associated with fat metabolism, visual and hearing acuity. Compared to dogs, the repertoire of olfactory genes in cats has shrunk and the repertoire of vomeronasal genes has expanded. Hypertrophic Cardiomyopathy (HCM), which occurs in the Maine Coon breed, and Polycystic Kidney Disease (PKD), which occurs in Persians, are very common genetic diseases. Brachycephaly is the most common genetically determined anomaly in populations of purebred cats. In certain breeds (Burmese, Persian), brachycephaly is a desirable trait on the basis of which animals are selected for breeding. In random bred cats, hereditary diseases are rare and occur singly. The lower incidence of hereditary diseases in random bred cats is due to less inbreeding, so in breeds with a high degree of inbreeding, attention should be focused on increasing genetic diversity