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master's thesis
Varijabilnost egzona gena CYP2D6 u romskim populacijama Hrvatske
Zagreb: University of Zagreb, Faculty of Science, 2018. urn:nbn:hr:217:063342
Puljko, Borna
University of Zagreb
Faculty of Science
Department of Biology

Institutional repository: Repository of the Faculty of Science

Cite this document

Puljko, B. (2018). Varijabilnost egzona gena CYP2D6 u romskim populacijama Hrvatske (Master's thesis). Zagreb: University of Zagreb, Faculty of Science. Retrieved from https://urn.nsk.hr/urn:nbn:hr:217:063342

Puljko, Borna. "Varijabilnost egzona gena CYP2D6 u romskim populacijama Hrvatske." Master's thesis, University of Zagreb, Faculty of Science, 2018. https://urn.nsk.hr/urn:nbn:hr:217:063342

Puljko, Borna. "Varijabilnost egzona gena CYP2D6 u romskim populacijama Hrvatske." Master's thesis, University of Zagreb, Faculty of Science, 2018. https://urn.nsk.hr/urn:nbn:hr:217:063342

Puljko, B. (2018). 'Varijabilnost egzona gena CYP2D6 u romskim populacijama Hrvatske', Master's thesis, University of Zagreb, Faculty of Science, accessed 03 May 2024, https://urn.nsk.hr/urn:nbn:hr:217:063342

Puljko B. Varijabilnost egzona gena CYP2D6 u romskim populacijama Hrvatske [Master's thesis]. Zagreb: University of Zagreb, Faculty of Science; 2018 [cited 2024 May 03] Available at: https://urn.nsk.hr/urn:nbn:hr:217:063342

B. Puljko, "Varijabilnost egzona gena CYP2D6 u romskim populacijama Hrvatske", Master's thesis, University of Zagreb, Faculty of Science, Zagreb, 2018. Available at: https://urn.nsk.hr/urn:nbn:hr:217:063342

Metadata
TitleVarijabilnost egzona gena CYP2D6 u romskim populacijama Hrvatske
Title (english)Variability in exons of CYP2D6 gene in Croatian Roma populations
AuthorBorna Puljko
MentorMarijana Peričić Salihović (mentor)
Committee memberMarijana Peričić Salihović (predsjednik povjerenstva)
Committee memberSofia Ana Blažević (član povjerenstva)
Committee memberPetra Korać (član povjerenstva)
Committee memberMaja Matulić (član povjerenstva)
GranterUniversity of Zagreb
Faculty of Science
(Department of Biology)
Zagreb
Defense date and country2018-02-23, Croatia
Scientific / art field,
discipline and subdiscipline		NATURAL SCIENCES
Biology
Abstract
Gen CYP2D6 kodira protein koji sudjeluje u metabolizmu 25% često prepisanih lijekova i drugih tvari iz okoliša. Ovaj gen vrlo je polimorfan što rezultira visokom ekspesijskom varijabilnošću među pojedincima i populacijama. U ovome radu su GT-seq metodom sekvencirani egzoni gena CYP2D6 u populacijama Roma iz Baranje, Međimurja i Zagreba s ciljem utvrđivanja intra- i interpopulacijske različitosti temeljem varijabilnosti egzona gena CYP2D6. U usporedbi s referentnom sekvencom u ukupnom istraživanom uzorku uočena su 24 polimorfna lokusa od kojih kod četri nije u skladu s Hardy- Weinbergovom ravnotežom. Ustanovljene su različite učestalosti mutacija između proučavanih populacija, te je utvrđena statistički značajna razlika u učestalostima genotipova između proučavanih populacija. Između parova lokusa u tri proučavane populacije detektirana je značajna neravnoteža vezanosti. Ovo istraživanje je potvrdilo genetske specifičnosti romskih populacija koje su posljedica njihove izoliranosti uzrokovane endogamijom, te još uvijek izraženog učinka utemeljitelja. Utvrđene varijabilnosti u genu CYP2D6 za posljedicu mogu imati učinak na uspješnost farmakoloških terapija.
Abstract (english)
The CYP2D6 gene codes for a protein which takes part in the metabolism of 25% commonly perscribed drugs and other xenobiotics. The CYP2D6 gene is very polimorfic, and its expression varies between individuals and among populations. In this research exons of the CYP2D6 gene were sequenced by the GT-seq method in three Roma populations, from Baranja and Međimurje regions and the city of Zagreb in order to determine intra- and interpopulation variability based on CYP2D6 exons. 24 loci were shown to be polimorfic and 4 of them were shown not to be in the Hardy-Weinberg equilibrium. Different frequencies of mutated allels and genotypes were shown to occur among the analyzed populations. Significant linkage disequilibrium was determined between a few pairs of loci. This research has shown a specific genetic profile of the three isoalted Roma populations. Their genetic specificities reflect the founder effect from their demographic history and the still existing endogamy practice. Detected variabilities in the CYP2D6 gene may have an effect on the efficiency of different pharmacological therapies.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:217:063342
Study programmeTitle: Molecular Biology
Study programme type: university
Study level: graduate
Academic / professional title: magistar/magistra molekularne biologije (magistar/magistra molekularne biologije)
Type of resourceText
File originBorn digital
Access conditionsOpen access
Embargo expiration date: 2019-02-23
Terms of useLicence In copyright icon
Created on2018-03-16 08:54:16