20.500.12556/DKUM-71690 Prisotnost aktivacijskih mutacij v genu PIK3CA in okužbe s HPV virusom v vzorcih raka ustne votline in ustnega dela žrela Presence of activating mutations in PIK3CA gene and HPV infection in head and neck cancer Izhodišče: Rak ustne votline in ustnega dela žrela je eden izmed najpogostejših rakov na svetu. Tradicionalno je povezan s kajenjem tobaka in pitjem alkohola, vendar se s to vrsto raka vedno bolj povezuje okužba HPV. HPV so zelo razširjeni majhni DNA virusi, ki povzročajo različne novotvorbe. V HPV pozitivnih rakih je najpogosteje mutiran PIK3CA gen, ki je zelo povezan z invazivnostjo raka. Prisotnost aktivacijskih mutacij v genu PIK3CA povzroči okrepitev PIK3K signalne poti v tumorskih tkivih, kar nakazuje, da je PIK3CA vpleten tudi v oblikovanje tumorjev. Metodologija: Opravili smo analizo DNA 108 tumorjev in 88 vzorcev zdravih tkiv ustne votline in ustnega dela žrela. Za določanje prisotnosti HPV, določitev tipa HPV in določanje najpogostejših aktivacijskih mutacij v genu PIK3CA smo uporabili metodo verižne reakcije s polimerazo (PCR). Dobljene produkte PCR smo analizirali s pomočjo elektroforeze v agaroznem gelu. Rezultati: Ugotovili smo, da lahko z metodo verižne reakcije s polimerazo določimo prisotnost HPV DNA v vzorcu kakor tudi mutacije v genu PIK3CA. Sklep: PCR reakcija se je izkazala za uspešno metodo za dokazovanje prisotnosti mutacij v genu PIK3CA kakor tudi za določanje prisotnosti HPV DNA v vzorcu. Za potrditev, da je ta metoda primerna tudi za določitev tipa HPV, pa bi morali celotno analizo opraviti na večjem številu vzorcev. Starting point Head and neck cancer is one of the most common cancers worldwide. It is traditionally associated with smoking and drinking but this type of cancer is increasingly associated with HPV infection. HPVs are very extended, small DNA viruses that cause a variety of neoplasms. In HPV positive cancers the PIK3CA gene is the most mutated gene and it is connected with cancer invasiveness. The presence of the activating mutations in PIK3CA gene strengthens the PIK3K signalling pathway in tumour tissues, which suggests that the PIK3CA gene is involved in tumour formation.. Methodology: A DNA analysis of 108 examples of tumour tissues and 88 examples of healthy tissues of the oral cavity and oral part of the larynx was done. To determine the presence of HPV, the type of HPV and the most common activating mutations in the PIK3CA gene, a polymerase chain reaction was used. The obtained PCR products were analysed with electrophoresis in the agarose gel. Results: It was determined that the polymerase chain reaction is an adequate method for determining the presence of the HPV DNA in the sample as well for determining mutations of the PIK3CA gene. Conclusion: PCR reaction has proven to be a successful method for determining the presence of PIK3CA mutations as well as for determining the presence of HPV DNA in the sample. In order to confirm that this method is also appropriate for determining a type of HPV, an analysis should be carried out on a larger number of samples. DNA PCR ORL tumorji začetni oligonukleotidi elektroforeza. DNA PCR ORL tumours primers electrophoresis. true false false [M. Jančar] Slovenski jezik Angleški jezik Magistrsko delo/naloga 2018-08-27 15:24:41 2018-09-27 14:26:42 2022-08-01 21:19:30 2019-07-11 18:51:11 2018 0 Maribor 0 0000-00-00 NiDoloceno NiDoloceno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 578.8:616-006(043.2) 2438052 URN:SI:UM:DK:CCUJIRIK MAG_Jancar_Maja_2018.pdf MAG_Jancar_Maja_2018.pdf 1 7702A2FA4B91AEE1769E1E8A5490C606 2d6d8bbb4a468f058f28357c6f5730b520cda97d5a729c092a846aa4b428840f 595fef45-7c10-11eb-bb7a-00155d0001ca 20.500.12556/dkum/45895b15-1fea-42b8-95da-ea2a0a5ec3ef https://dk.um.si/Dokument.php?lang=slv&id=129748 Fakulteta za zdravstvene vede 0 0 0