20.500.12556/RUL-186110 Genetski testi za napovedovanje bolezni pri konjih pasme quarter magistrsko delo Genetic tests for predicting diseases in Quarter Horses M. Sc. thesis Namen magistrskega dela je bil ovrednotiti pomen genetskega testiranja ter ugotoviti prisotnost in tveganje za pojav dednih bolezni pri konjih pasme quarter v Sloveniji. Raziskava je zajela 74 konj, od tega 73 pasme quarter in enega pasme paint, kar predstavlja približno 12 % takratne slovenske populacije quarter konj. Analizirane so bile štiri genske bolezni: dedna regionalna oslabitev kože (HERDA), hiperkalemična periodična paraliza (HYPP), miopatija skladiščenja polisaharidov tipa 1 (PSSM) in maligna hipertermija (MH). Genomsko DNA smo izolirali iz vzorcev krvi ter ciljne sekvence analizirali z metodami verižne reakcije s polimerazo (PCR), PCR-RFLP in sekvenciranja. Uspešnost PCR in restrikcij smo preverili z gelsko elektroforezo, prisotnost mutacij pa z določanjem nukleotidnega zaporedja izbranih vzorcev. Rezultati so pokazali 14,9 % heterozigotnih nosilcev mutacije za bolezen HERDA, pri čemer homozigotov za mutirani alel nismo zaznali. Pri boleznih HYPP in MH mutiranih alelov v analiziranih vzorcih nismo ugotovili. Pri PSSM tipa 1 je bil ugotovljen en heterozigotni nosilec, ki ni pripadal pasmi quarter, zato pojavnosti bolezni v populaciji ni bilo mogoče oceniti. Raziskava potrjuje prisotnost dednih bolezni v slovenski populaciji konj pasme quarter ter poudarja nujnost sistematičnega genetskega testiranja in odgovorne rejske politike za dolgoročno izboljšanje genetskega zdravja pasme. The aim of this master’s thesis was to evaluate the importance of genetic testing and to determine the presence and potential risk of inherited diseases in Quarter Horses in Slovenia. The study included 74 horses, of which 73 were Quarter Horses and one was a Paint Horse, representing approximately 12% of the Slovenian Quarter Horse population at the time of the study. Four genetic diseases with significant implications for equine health and breeding were investigated: hereditary equine regional dermal asthenia (HERDA), hyperkalemic periodic paralysis (HYPP), polysaccharide storage myopathy type 1 (PSSM1), and malignant hyperthermia (MH). Genomic DNA was isolated from blood samples and analyzed using polymerase chain reaction (PCR), PCR–restriction fragment length polymorphisms (PCR-RFLP), and DNA sequencing. The success of PCR amplification and restriction was verified by gel electrophoresis, and the presence of mutations was confirmed by sequencing selected samples. The results revealed that 14.9% of the analyzed horses were heterozygous carriers of the mutation associated with HERDA, while no homozygous individuals for the mutant allele were detected. No mutant alleles were identified for HYPP or MH in the analyzed samples. One heterozygous carrier of the PSSM1 mutation was detected; however, this individual did not belong to the Quarter Horse breed, and therefore the prevalence of PSSM1 within the Quarter Horse population could not be assessed. The findings confirm the presence of disease-causing alleles in the Slovenian Quarter Horse population and emphasize the importance of systematic genetic testing and responsible breeding strategies for improving the long-term genetic health of the breed. konji pasme ameriški quarter konj dedne bolezni molekularna genetika genetsko testiranje genske mutacije magistrska dela horses breeds American Quarter Horse breed inherited diseases molecular genetics genetic testing mutations true false false A. Ule Slovenski jezik Angleški jezik Magistrsko delo/naloga 2026-08-27 08:15:14 2026-08-27 08:15:24 2026-08-28 04:41:19 0000-00-00 00:00:00 2026 0 Ljubljana 2026 Ljubljana 1 spletni vir (1 datoteka PDF (VIII, [38] str.)) 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 636.1:575(043.2) 285925 289079043 60335.pdf 60335.pdf 1 AE052FC3616425C542E0D9435F408ADF 5ba9ca1cc46daaeaa85d0a1f8bae38ec8b0469d61a9de409c7e58b2fab9987a0 461af973-a1de-11f1-9b0d-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=245189 Biotehniška fakulteta 0 0 0