Faculty of Pharmacy, Lj. (FFALJ)
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Identifikacija novega polimorfizma (TTTTA)10 v promotorju gena CYP11A = Identification of a novel polymorphism (TTTTA)10 in the promoter of the gene CYP11A : diplomska nalogaČelhar, TejaEncim CYP11A je citokrom P450, ki v prvi stopnji sinteze steroidnih hormonov cepi stransko verigo holesterola in ga pretvori v pregnenolon. Zaradi sodelovanja pri sintezi spolnih hormonov, so gen ... CYP11A uvrstili med gene kandidate za razvoj sindroma policistiènih jajènikov (PCOS). V promotorski regiji gena so na polozaju - 528 bp od ATG starta odkrili prisotnost mikrosatelitnega polimorfizma (tttta)n in v veèih studijah ugotovili povezavo med stevilom ponovitev mikrosatelita in hiperandrogenizmom pri bolnicah s PCOS. Nedavna japonska studija je potrdila vpliv dolzine (tttta)n polimorfizma na razvoj napredovanih oblik raka prostate. Objavljeni podatki v dosedanjih studijah navajajo pet alelov gena CYP11A, ki vsebujejo razlièno stevilo ponovitev (tttta)n polimorfizma in sicer (tttta)4, (tttta)6, (tttta)7,(tttta)8 in (tttta)9. V sklopu sirse studije smo zeleli doloèiti frekvenèno razporeditev alelnih razlièic (tttta)n v slovenski populaciji. Ker je bil del raziskav izveden na Ginekoloski kliniki v Ljubljani na zenskih preiskovankah, smo se odloèili za genotipizacijo slovenske moske populacije naprisotnost alelnih razlièic CYP11A. Iz venske krvi 96 nakljuèno izbranih preiskovancev smo izolirali DNA, pomnozili odsek z mikrosatelitnim polimorfizmom s PCR reakcijo in posamezne fragmente loèili z elektroforezo na 12% poliakrilamidnem gelu. Za doloèitev genotipa smo posamezne lise primerjalis standardom dolzin fragmentov. V enem izmed vzorcev smo identificirali nestandardni fragment in s sekvenèno analizo nukleotidnega zaporedja potrdili prisotnost (tttta)10 alela. Nato smo pridobili vzorce krvi starsev in nekaterih sorodnikov preiskovanca z alelom (tttta)10, jih genotipizirali in spremljali segregacijo alelov znotraj druzine. V vzorèni skupini 96 preiskovancev smo ugotovili naslednjo frekvenèno porazdelitev posameznih alelovČ 58,3% (tttta)4, 22,4% (tttta)6, 10,4% (tttta)8, 8,3% (tttta)9 in 0,5% (tttta)10. Taksna porazdelitev je po prièakovanjih primerljiva z do sedaj objavljenimi podatki za evropsko populacijo, oèitno pa se razlikuje od podatkov za japonsko populacijo.Type of material - undergraduate thesisPublication and manufacture - Ljubljana : [Čelhar, T.], 2004Language - slovenianCOBISS.SI-ID - 1560689
Author
Čelhar, Teja
Other authors
Mlinarič-Raščan, Irena |
Geršak, Ksenija
Topics
androgeni |
mikrosateliti |
citokrom P450sccc |
spolni hormoni |
izolacija DNA
Call number – location, accession no. ... |
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Knjižnica dp 0000000061 Čelhar Teja Identifikacija IN: 0007751 Knjižnica dp 61 Čelhar Teja Identifikacija IN: 0007751 |
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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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Čelhar, Teja | 26498 |
Mlinarič-Raščan, Irena | 12443 |
Geršak, Ksenija | 00814 |
Source: Personal bibliographies
and: SICRIS
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