20.500.12556/RUL-163850 Odkrivanje delecij in duplikacij v genih STRC, CATSPER2 in OTOA Detection of deletions and duplications in the STRC, CATSPER2 and OTOA genes Izguba sluha je najpogostejša senzorična motnja pri ljudeh. Vzroki, ki privedejo do naglušnosti ali gluhosti so različni, v veliki meri genetski. V sklopu magistrske naloge smo ocenili in ovrednotili uporabo metode hkratnega pomnoževanja od ligacije odvisnih sond (MLPA – multiplex ligation dependent probe amplification), kot dopolnilne diagnostične metode, v okviru diagnostike senzorinevralne izgube sluha. Z uporabo kompleta sond P461-A1 DIS in P461-B1, proizvajalca MRC Holland, ki se uporabljajo v povezavi z boleznimi DIS, DFNB16 in DFNB22, smo odkrili spremembe v številu kopij genov STRC, CATSPER2 in OTOA. Od pregledanih 42 vzorcev, kjer v standardnem postopku diagnostike senzorinevralne naglušnosti niso odkrili patogenih različic, smo z metodo MLPA odkrili spremembe v številu kopij pri šestih pacientih. Rezultati kažejo, da je metoda MLPA primerna za uporabo v klinični praksi, saj je natančna, tehnično nezahtevna in utemeljena tako z vidika kakovosti rezultatov kot tudi cenovne dostopnosti. Zgodnja prepoznava genske etiologije izgube sluha pa je ključna za pravočasno klinično ukrepanje, slušno rehabilitacijo in ustrezno genetsko svetovanje. Hearing loss is the most common sensory disorder in humans. The causes that lead todeafness or difficulty of hearing are varied and largely genetic. In the context of thisMSc thesis, we evaluated and assessed the use of multiplex ligation dependent probeamplification (MLPA) as a complementary diagnostic method in the diagnosis ofsensorineural hearing loss. Using the P461-A1 DIS and P461-B1 probe sets from MRCHolland, which are associated with DIS, DFNB16 and DFNB22 diseases, we detectedcopy number changes in the STRC, CATSPER2 and OTOA genes. Of the 42 samplesexamined, for which the standard diagnostic procedure for sensorineural hearing lossdetected no pathogenic variants, MLPA detected copy number changes in six patients.The results show that the MLPA method is suitable for use in clinical practice as it isaccurate, simple to execute from a technological perspective and justified both in termsof high-quality results and affordability. Early identification of the genetic aetiology ofhearing loss is crucial for timely clinical intervention, auditory rehabilitation andappropriate genetic counselling. STRC CATSPER2 OTOA MLPA senzorinevralna izguba sluha STRC CATSPER2 OTOA MLPA sensorineural hearing loss true false false [S. Casar] Slovenski jezik Angleški jezik Magistrsko delo/naloga 2024-10-13 07:15:51 2024-10-13 07:15:59 2024-10-17 13:26:23 0000-00-00 00:00:00 2024 0 0 0000-00-00 NiDoloceno NiDoloceno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 1970-01-01 616.28-008.14(043.2) 248304 211964931 44274.pdf 44274.pdf 1 7B28538CEE053A0D6B89854E0FBFAF81 f115cfbba63f5f18997b2dfc65cf74ca8a811d6b1542c71fa78fe1f519134489 051404db-8922-11ef-b232-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=193799 Biotehniška fakulteta 0 0 0