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Povezanost mutacije 677C>T v genu za 5,10-metilentetrahidrofolat reduktazo s hiperhomocisteinemijo pri bolnikih s končno ledvično odpovedjo = Connection between A 677C>T mutation in 5,10-methylenetetrahydrofolate reductase gene and hyperhomocysteinemia in end-stage renal disease patients : diplomska nalogaPetrović, KatarinaHomocistein je pomemben intermediat presnove aminokislin. V presnovi homocisteina sodeluje tudi encim 5,10-metilentetrahidrofolat reduktaza (MTHFR), ki uravnava koncentracijo 5-metiltetrahidrofolata, ... ki je metilni donor pri remetilaciji homocisteina v metionin. Posledica pogoste mutacije 677C>T v genu za MTHFR je zmerna hiperhomocisteinemija. Pri bolnikih s konèno ledvièno odpovedjo je pojavnost zmerne do srednje hiperhomocisteinemije 85-100%. Hiperhomocisteinemija je eden od dejavnikov tveganja za srènozilna obolenja, ki so glavni vzrok smrti bolnikov s konèno ledvièno odpovedjo.Poskusali smo ugotoviti vpliv prisotnosti mutacije 677C>T v genu za MTHFR na hiperhomocisteinemijo pri bolnikih s konèno ledvièno odpovedjo. Opravili smo gensko analizo 149 navidezno zdravih preiskovancev v kontrolni skupini in 59 bolnikov s konèno ledvièno odpovedjo. Za gensko analizo vzorcev smo uporabili metodo verizne reakcije s polimerazo (PCR) in analizo polimorfizmov dolzin restrikcijskih odsekov (RFLP) po cepitvi z restrikcijskimencimom HinfI. Alelna frekvenca T alela je bila 32,2 % pri kontrolni skupini in 28,0 % pri bolnikih s konèno ledvièno odpovedjo. Pojavnost CC genotipa je bila 47,7 % v kontrolni skupini in 52,5 % v skupini bolnikov, CT genotipa 40,3 % v kontrolni skupini in 39,0 % v skupini bolnikov ter TT genotipa 12,1 % v kontrolni skupini in 8,5 % v skupini bolnikov. Med skupino bolnikov in kontrolno skupino se genotipske in alelne frekvence T in Calela statistièno ne razlikujejo. Na podlagi koncentracij celokupnega plazemskega homocisteina in doloèenih genotipov za posamezen vzorec smo ugotovili, da obstaja statistièno znaèilna razlika v koncentracijah med genotipi CC in TT pri skupini bolnikov. V kontrolni skupini ni bilo statistièno znaèilnih razlik v koncentracijah homocisteina med genotipi.Genotip TT za mutacijo 677C>T verjetno prispeva k hiperhomocisteinemiji pri bolnikih s konèno ledvièno odpovedjo. Do koliksne mere pa prispeva, bi lahko natanèneje ovrednotili z izvedbo obseznejse studije, ki vkljuèuje tudi ostale dejavnike, ki vplivajo na hiperhomocisteinemijo.Type of material - undergraduate thesisPublication and manufacture - Ljubljana : [Petrović, K.], 2005Language - slovenianCOBISS.SI-ID - 1744241
Author
Petrović, Katarina
Other authors
Lukač-Bajalo, Jana |
Ostanek, Barbara, 1972-
Topics
hiperhomocisteinemija |
diagnostika |
zdravljenje |
statistična analiza |
metode
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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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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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Petrović, Katarina | ![]() |
Lukač-Bajalo, Jana | 03573 |
Ostanek, Barbara, 1972- | 18154 |
Source: Personal bibliographies
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