Polimorfizmi gena SLC22A1 i SLC22A2 u populacijama Roma Hrvatske

master's thesis

• Title (english): Polymorphisms of SLC22A1 and SLC22A2 genes in Croatian Roma populations
• Author: Andrea Bolf
• Mentor: Marijana Peričić Salihović (mentor)
• Committee member: Marijana Peričić Salihović (predsjednik povjerenstva)
• Committee member: Ines Radanović (član povjerenstva)
• Committee member: Željka Soldin (član povjerenstva)
• Committee member: Draginja Mrvoš-Sermek (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2021-07-15, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

Romska populacija je transnacionalna manjinska populacija koja je zbog svoje izolacije stekla specifičnu zalihu gena. U ovom radu analizirani su geni iz ADME skupine (geni uključeni u apsorpciju, distribuciju, metabolizam i eliminaciju lijekova). Cilj je bio utvrditi na koji način demografska povijest i evolucijski mehanizmi utječu na distribuciju alela i haplotipova farmakogenetski relevantnih polimorfizama jedne baze (SNP) unutar gena SLC22A1 i SLC22A2 u trima populacijama Roma Hrvatske kroz usporedbu s europskim i azijskim populacijama. Za istraživanje koristili su se uzorci DNA izolirane iz krvi pripadnika romskih populacija i to 132 ispitanika s područja Baranje, 129 iz Međimurja i 176 iz Zagreba. Uzorci su genotipizirani metodom KASP (eng. Kompetitive Allele Specific PCR). Od 13 analiziranih lokusa, 5 lokusa gena SLC22A1 i 1 lokus gena SLC22A2 bili su polimorfni. Većina polimorfnih lokusa pokazala je statistički značajnu razliku u učestalostima alela i genotipova između istraživanih populacija. Raspodjela haplotipova pokazala je jedan najučestaliji haplotip u svim populacijama osim kod Roma iz Zagreba. Genetičke udaljenosti između svih istraživanih populacija pokazuju grupiranje prema kontinentalnim skupinama uz najveću odvojenost populacija istočne Azije. Romske populacije Baranje i Zagreba bliske su europskim populacijama, dok populacija Roma iz Međimurja pokazuje najveću izoliranost.

Abstract (english)

The Roma population is a transnational minority population that has been isolated throughout history which resulted with specific gene pool. The aim of this thesis was to determine how demographic history and evolutionary mechanisms affect the distribution of alleles and haplotypes of pharmacogenetic relevant single base (SNP) polymorphisms within the SLC22A1 and SLC22A2 genes in the three Roma groups from Croatia through the comparison with European and Asian populations. DNA was extracted from the blood samples of the members of Roma groups, 132 from the Baranja, 129 from Međimurje and 176 from Zagreb. Samples were genotyped in a commercial laboratory by the Competitive Allele Specific PCR method. Of the 13 analyzed loci, 5 of the SLC22A1 gene and 1 locus of the SLC22A2 gene were polymorphic. Most polymorphic loci showed a statistically significant difference in allele and genotype frequencies between the studied populations. The distribution of haplotypes showed, one the most common haplotype in all populations except in Roma from Zagreb. Genetic distances between all studied populations showed continental grouping with the greatest separation of East Asian populations. The Roma populations of Baranja and Zagreb were close to the European populations, while the Roma population from Međimurje shows the greatest isolation.

• Keywords: izolacija; zaliha gena; genotipizacija; učestalost
• Keywords (english): isolation; gene pool; genotyping; frequency
• Language: croatian
• URN:NBN: urn:nbn:hr:217:052616
• Study programme: Title: Integrated undergraduate and graduate university study of Biology and Chemistry Education; specializations in: Integrated undergraduate and graduate university study of Biology and Chemistry Education; Course: Integrated undergraduate and graduate university study of Biology and Chemistry Education; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: magistar/magistra edukacije biologije i kemije (magistar/magistra edukacije biologije i kemije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2021-07-23 10:35:56