Raspodjela alela gena CYP2B6 u romskim populacijama Hrvatske

master's thesis

• Title (english): Distribution of CYP2B6 Alleles in Croatian Roma Populations
• Author: Antonija Kuhanec
• Mentor: Marijana Peričić Salihović (mentor)
• Committee member: Ana Galov (predsjednik povjerenstva)
• Committee member: Martina Šeruga Musić (član povjerenstva)
• Committee member: Inga Marijanović (član povjerenstva)
• Committee member: Maja Matulić (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2017-02-28, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

CYP2B6 jedan je od mnogobrojnih proteina iz obitelji citokroma P450 i čini do 10% svih citokroma P450 u jetri čovjeka. Odgovoran je za metabolizam oko 4% od najčešćih 200 lijekova te je inducibilan lijekovima i ostalim ksenobioticima. Ekspresija gena CYP2B6 je visoko varijabilna među pojedincima, a utvrđene su bitne razlike i među populacijama. U ovom su radu analizirane mutacije rs12721655, rs2279343, rs28399499, rs34097093, rs3745274, rs7260329 i rs8192709 gena CYP2B6 u trima romskim populacijama iz Hrvatske: populacijama iz Baranje, Međimurja i Zagreba. Uzorci su genotipizirani metodom KASP (Kompetitive allele specific PCR). Mutirani aleli detektirani su na lokusima rs2279343, rs3745274, rs7260329 i rs8192709. Učestalosti mutacija različite su između analiziranih populacija te je utvrđena statistički značajna razlika u učestalosti genotipova između populacija. Svi su analizirani polimorfni lokusi u svim populacijama u skladu s Hardy-Weinbergovom ravnotežom. Utvrđena je značajna neravnoteža vezanosti između parova lokusa u trima istraživanim populacijama. Ovim su istraživanjem utvrđene genetske specifičnosti romskih populacija koje bi u ovom konkretnom slučaju mogle imati kao posljedicu modulaciju farmakoterapije.

Abstract (english)

CYP2B6 is one of the numerous members of the cytochrome P450 family and constitutes 2% to 10% of the total hepatic cytochrome content in humans. It is responsible for the metabolism of 4% of the top 200 drugs and is inducible by drugs and other xenobiotics. CYP2B6 gene expression is highly variable among individuals and significant differences among populations have been detected. In this study, the presence of mutations at seven CYP2B6 loci (rs12721655, rs2279343, rs28399499, rs34097093, rs3745274, rs7260329 and rs8192709) was analysed in three Croatian Roma populations from the regions of Baranja, Međimurje, and Zagreb. The KASP (Kompetitive allele specific PCR) method was used in loci genotyping. Mutated alleles were detected at loci rs2279343, rs3745274, rs7260329 and rs8192709. Mutation frequencies were different among analysed populations and significant differences in genotype frequencies among populations were detected. All analysed polymorphous loci in all populations are in Hardy-Weinberg equilibrium. Significant linkage disequilibrium in pairs of loci in all three analysed populations has been documented. This study confirms unique genetic features of Roma populations, which in this specific case could affect pharmacotherapy modulation.

• Keywords: CYP2B6; SNP; genski pomak; endogamija; efavirenz
• Keywords (english): CYP2B6; SNP; efavirenz; genetic drift; endogamy
• Language: croatian
• URN:NBN: urn:nbn:hr:217:490202
• Study programme: Title: Molecular Biology; Study programme type: university; Study level: graduate; Academic / professional title: magistar/magistra molekularne biologije (magistar/magistra molekularne biologije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2017-04-20 10:38:06