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Opredelitev genetskih sprememb pri bolnikih z von Willebrandovo boleznijo tipa 2 = Identification of genetic changes in patients with type 2 von Willebrand disease : Master's Study Programme Laboratory BiomedicineGlobokar, BarbaraVon Willebrandova bolezen (VWB), ki je posledica genetskih sprememb na genu VWF, je najpogostejša podedovana motnja v strjevanju krvi. Molekularno genetska analiza gena VWF je zelo kompleksna in se v ... splošni laboratorijski praksi v Sloveniji še ne uporablja. Razlog je visoka polimorfnost gena VWF in njegovega psevdogena (VWFP1), ki moti molekularno genetske analize, tudi sekvenciranje po Sangerju in sekvenciranje naslednje generacije (NGS). Namen magistrske naloge je opredeliti genetske vzroke VWB tipa 2 pri slovenskih bolnikih. V raziskavo smo vključili 26 bolnikov pri katerih obstaja sum na VWB tipa 2. Uvedli smo pristop za specifično pomnoževanje eksona 28 gena VWF, ne pa psevdogena VWFP1. Pomnoženim odsekom smo nato določili nukleotidno zaporedje s sekvenciranjem po Sangerju. Spremembe smo glede na ACMG klasifikacijo opredelili kot patološke, verjetno patološke, spremembe z neznanim pomenom (VUS) in benigne. Vse, razen benignih sprememb, smo podrobno opisali in določili njihov klinični pomen. Na koncu smo spremembe pri bolnikih primerjali s fenotipom bolnikov, opisanih v drugih populacijah. Frekvenca VWB tipa 2A v preiskovani skupini bolnikov s sumom na VWB tipa 2 znaša 25 % in za tip 2B 12,5 %. Pri bolnikih nismo opredelili sprememb, ki bi bile lahko vzrok za VWB tipa 2M in 2N. V primerjavi z drugimi populacijami je v Sloveniji večji delež VWB tipa 2A in manjši delež vseh ostalih tipov VWB. Razlog za to je lahko majhno število bolnikov, vključenih v raziskavo in ciljana osredotočenost na analizo eksona 28 gena VWF. Bolniki, pri katerih smo opredelili le benigne spremembe, bodo naknadno analizirani z metodo NGS, saj pričakujemo, da se spremembe nahajajo v drugih delih gena VWF. Do sedaj je za bolnike, kjer obstaja sum na VWB, potrditev diagnoze temeljila le na kliničnih podatkih. Z molekularno genetskimi analizami lahko sedaj hitreje in bolj natančno potrdimo diagnozo.Type of material - master's thesis ; adult, seriousPublication and manufacture - Ljubljana : [B. Globokar], 2023Language - slovenianCOBISS.SI-ID - 154906627
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Faculty of Pharmacy, Ljubljana | Ljubljana | FFALJ |
reading room 1 cop.
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Database name | Field | Year |
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Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
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Globokar, Barbara | ![]() |
Trebušak Podkrajšek, Katarina | 20253 |
Debeljak, Maruša | 15657 |
Source: Personal bibliographies
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