Faculty of Pharmacy, Lj. (FFALJ)
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Opredelitev genetskih sprememb v genih CDKN2A in CDKN2B pri otrocih z B-celično akutno limfoblastno levkemijo = Identification of genetic alterations in CDKN2A and CDNK2B genes in children with B cell acute lymphoblastic leukemia : [magistrski študijski program Laboratorijska biomedicina]Štangar, AnjaAkutna limfoblastna levkemija (ALL), ki je posledica rakavo spremenjene limfatične celice B ali T, je najpogostejša rakava bolezen pri otrocih. Uporaba visoko standardiziranih protokolov zdravljenja ... omogoča visoke stopnje preživetja, kljub temu pa je pri posameznikih z določenimi podtipi še vedno napoved slaba. Zato je izrednega pomena prepoznavanje dodatnih molekularno-genetskih dejavnikov, ki vplivajo na uspešno zdravljenje oz. ponovitev bolezni. V okviru magistrske naloge smo pri otrocih z B-celično ALL v tumor supresorskih genih CDKN2A in CDKN2B določali spremembe števila kopij genov z metodo MLPA (od ligacije odvisno hkratno pomnoževanje sond) in nukleotidne spremembe z metodo sekvenciranja po Sangerju. Pri več kot tretjini otrok v naši kohorti (43,3 %) so bile prisotne spremembe v genih CDKN2A oz. CDKN2B. Pogosteje je bilo prisotno spremenjeno število kopij gena kot pa sprememba nukleotidnega zaporedja. V preiskovani skupini so bile le pri 7,7 % otrok, ki so doživeli relaps ali smrt, prisotne spremembe enega nukleotida gena CDKN2A/2B. Največja pojavnost sprememb je bila v drugem eksonu gena CDKN2A. Na tem eksonu smo opredelili spremembo p.Ala148Thr (rs3731249) pri petih od 67 bolnikov. Glede na rezultate sklepamo, da nukleotidne spremembe na genu CDKN2A/2B niso odločilne za slabo prognozo oz. neodzivnost na klasično zdravljenje, zato uvedba te genetske analize v začetno diagnostiko ni smiselna.Type of material - master's thesis ; adult, seriousPublication and manufacture - Ljubljana : [A. Štangar], 2021Language - slovenianCOBISS.SI-ID - 68505091
Author
Štangar, Anja
Other authors
Trebušak Podkrajšek, Katarina |
Debeljak, Maruša
Topics
Levkemija |
Etiologija |
Patogeneza |
B-celična akutna limfoblastna levkemija |
delecija genov CDKN2A |
delecija genov CDKN2B |
nukleotidne spremembe CDKN2A/2B |
prognoza |
polimorfizmi
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Knjižnica mlab 0000000616 ŠTANGAR ANJA Opredelitev 0000000265 IN: 0016975 Knjižnica mlab 616 ŠTANGAR ANJA Opredelitev 265 IN: 0016975 |
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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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Štangar, Anja | |
Trebušak Podkrajšek, Katarina | 20253 |
Debeljak, Maruša | 15657 |
Source: Personal bibliographies
and: SICRIS
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