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Opredelitev sprememb v genu in psevdogenih PKD1 pri bolnikih z avtosomno dominantno policistično boleznijo ledvic = Detection of variants in PKD1 gene and pseudogenes in patients with autosomal dominant polycystic kidney disease : magistrski študijski program Laboratorijska biomedicinaSnoj, LaraAvtosomna dominantna policistična bolezen ledvic je ena izmed najpogostejših življenje ogrožajočih genetskih motenj. Povzročajo jo spremembe v genih PKD1 in PKD2, ki sledijo avtosomno dominantnemu ... načinu dedovanja. Policistin-1 in policistin-2, proteinska produkta genov PKD1 in PKD2, sta integralna membranska proteina, odgovorna za transport Ca2+ ionov preko celične membrane. Motnje v njunem delovanju povzročijo motnje v homeostazi Ca2+, kar vodi v povečano proliferacijo tubulnih epitelijskih celic ter nastanek cist v ledvicah. Posledica sta simetrično povečani ledvici ter okvare njune funkcije, ki lahko privedejo do končne ledvične odpovedi. Diagnostika ADPKD trenutno temelji na rezultatih ultrazvočne preiskave ter kliničnih znakih bolnikov. Genetska diagnostika je otežena zaradi velike genetske in alelne heterogenosti, kompleksne strukture ter velike podobnosti PKD1 s 6 psevdogeni, ki se nahajajo v njegovi neposredni bližini. Metode sekvenciranja naslednje generacije (NGS) namreč niso dovolj specifične, da bi lahko zanesljivo ločile med spremembami v genu in psevdogenih, kar se odraža v velikem številu lažno pozitivnih rezultatov. Za detekcijo sprememb v PKD1 se uporablja dvostopenjski pristop. V prvi stopnji metoda pomnoževanja dolgih odsekov (LR-PCR) zagotovi tarčno pomnožitev aktivnega gena, v drugi stopnji pa se določi zaporedje z NGS, na primer s sekvenciranjem celotnega eksoma (WES), ali s sekvenciranjem po Sangerju. V okviru magistrske naloge smo želeli dokazati, da je metoda WES dovolj zanesljiva za uporabo v rutinski diagnostiki ADPKD. Zato smo rezultate pridobljene z WES ali z analizo kliničnega eksoma (TSO), primerjali z rezultati pridobljenimi z novo vpeljano, dvostopenjsko metodo LR-PCR in NGS. Pri 29 preiskovancih smo z WES/TSO določili 13 patogenih ali verjetno patogenih sprememb, z novo metodo smo jih potrdili le 8. Za 4 spremembe, ki so se nahajale v eksonih 41, 44 in 46, smo predpostavljali 100 % zanesljivost WES, zato jih v potrjevanje nismo vključili. S tem pristopom smo določili tudi novo spremembo, ki smo jo predhodno s TSO panelom spregledali. Prav tako pristop z WES ne omogoča primerne kvalitete analize eksona 1, zato bi bilo pri vsakemu preiskovancu z negativnim rezultatom WES, potrebno rezultat potrditi še z LR-PCR za to področje.Type of material - master's thesis ; adult, seriousPublication and manufacture - Ljubljana : [L. Snoj], 2023Language - slovenianCOBISS.SI-ID - 157497347
Author
Snoj, Lara
Other authors
Trebušak Podkrajšek, Katarina |
Jenko Bizjan, Barbara, 1988-
Topics
Genetska diagnostika |
Ledvice |
avtosomna dominantna policistična bolezen ledvic |
verižna reakcija s polimerazo |
pomnoževanje dolgih odsekov |
sekvenciranje naslednje generacije |
občutljivost |
psevdogeni
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Library/institution |
City | Acronym | For loan | Other holdings |
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Faculty of Pharmacy, Ljubljana | Ljubljana | FFALJ |
reading room 1 cop.
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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DRS, in which the journal is indexed
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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Snoj, Lara | ![]() |
Trebušak Podkrajšek, Katarina | 20253 |
Jenko Bizjan, Barbara, 1988- | 35356 |
Source: Personal bibliographies
and: SICRIS
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