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Vpliv sprememb genov za receptor vitamina D in za alfa 1 verigo kolagena I na mineralno kostno gostoto = The influence of vitamin D receptor and alfa 1 chain of collagen I genes on bone mineral density : diplomska nalogaDi Bon, TjašaSkelet odraslega èloveka je v stalni dinamiki razgradnje stare in gradnje novekostnine. Usklajeno razgradnjo ze obstojeèega in tvorbo novega kostnega tkiva imenujemo kostna remodelacija. ... Neuravnotozenost v smeri poveèane razgradnje ali zmanjsane izgradnje vodi v znizano mineralno kostno gostoto (BMD) in zmanjsano mehansko trdnost kosti, kar vodi v zlome. Dokazano je, da vpliv na BMD v veè kot 80% predstavlja dedni dejavnik. Odkritih je bilo veè, za to odgovornih kandidatnih genov, med katerimi sta tudi gena za receptor vitamina D (VDR) in gen za alfa 1 verigo kolagena tipa I (COLIA1). Receptor vitamina D spada med transkripcijske faktorje za sintezo proteinov, ki omogoèajo prenos Ca2+ in s tem sodeluje v procesu kostne remodelacije. Gen za COLIA1 kodira alfa 1 verigo kolagena tipa I, ki je glavni gradnik organskega matriksa kostnine. Prisotnost polimorfizmov v navedenih genih bi lahko privedla do motenj v sestavi kostnega tkiva.Nas namen je bil ugotoviti povezavo med prisotnostjo polimorfizma BsmI v genu za VDR in polimorfizma MscIv genu za COLIA1 in znizano BMD. V studijo smo vkljuèili 117 nakljuèno izbranih zensk, ki smo jih razdelili v stiri skupine glede na èas nastopa menopavze. Z verizno reakcijo s polimerazo smo pomnozili odsek od eksona 7 do introna 8 v genu za VDR in del introna 1 v genu za COLIA1. Pomnozene odseke smo inkubirali ob prisotnosti restrikcijskih endonukleaz BsmI in MscI, ki sta prepoznali doloèeno nukleotidno zaporedje in cepile DNA. Na podlagi analize polimorfizmov dolzin restrikcijskih fragmentov smo preiskovankam doloèili genotipe. Prisotnost restrikcijskega mesta smo oznaèili z b oz. G, odsotnost pa z B oz. T. Na koncu smo s statistiènim testom analiza variance enega faktorja (ANOVA) ovrednotili vpliv genotipov na BMD, ki je bila izmerjena na predelu vretenc in kolka.Type of material - undergraduate thesisPublication and manufacture - Ljubljana : [Di Bon, T.], 2003Language - slovenianCOBISS.SI-ID - 1280369
Author
Di Bon, Tjaša
Other authors
Marc, Janja |
Pečar, Slavko |
Umek, Andrej, 1951-
Topics
mineralna gostota kosti |
BMD |
genski dejavniki |
polimeraza |
analiza polomorfizmov |
RFLP analiza
Library | Call number – location, accession no. ... | Copy status |
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Faculty of Pharmacy, Lj. | Knjižnica dp 616 Di Bon Tjaša Vpliv IN: 0006873 |
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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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Di Bon, Tjaša | |
Marc, Janja | 12189 |
Pečar, Slavko | 03070 |
Umek, Andrej, 1951- | 09635 |
Source: Personal bibliographies
and: SICRIS
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