Polimorfizmi gena NAT1 i NAT2 u romskim populacijama Hrvatske

master's thesis

• Title (english): Polymorphismso of NAT1 and NAT2 genes in Croatian Roma populations
• Author: Marko Škobalj
• Mentor: Marijana Peričić Salihović (mentor)
• Committee member: Damjan Franjević (predsjednik povjerenstva)
• Committee member: Domagoj Đikić (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2019, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

Romi su transnacionalna manjinska populacija koja je zbog svojih osobitosti uspjela
u velikoj mjeri sve do danas sačuvati svoju izoliranost koja utječe na njihovu zalihu gena. U
ovom radu analizirana je varijabilnost gena NAT1 i NAT2 koji sudjeluju u metabolizmu
brojnih lijekova i ksenobiotika, kod 439 pripadnika populacija Roma, od kojih su 177 s
područja Balkana, 132 s područja Baranje i 130 s područja Međimurja. Cilj je bio utvrditi
kako genetička povijest populacija, migracije i endogamija utječu na raspodjelu alela i
haplotipova u istraživanim genima. Od 7 analiziranih lokusa gena NAT1 3 su bila polimorfna,
a od 6 analiziranih lokusa gena NAT2 5 ih je bilo polimorfno. Svi polimorfni lokusi bili su u
Hardy-Weinbergovoj ravnoteži. Raspodjela rekonstruiranih haplotipova gena NAT1 nije
pokazivala populacijsku različitost, dok je u raspodjeli haplotipova gena NAT2 uočen haplotip
specifičan samo za populaciju Roma iz Baranje. Interpopulacijske metode utvrdile su veću
različitost između populacija kod gena NAT2 nego kod gena NAT1, kao što su i genetičke
udaljenosti između romskih populacija također bile izraženije kod gena NAT2. Sveukupna
veća raznolikost istraživanih lokusa kod gena NAT2 nego kod gena NAT1 u skladu je s
njihovim evolucijskim obrascima.

Abstract (english)

The Roma are a transnational minority population which, due to its characteristics,
has largely managed to maintain its isolation, which affects their gene pool. This thesis has
analyzed the variability of NAT1 and NAT2 genes involved in metabolism of numerous drugs
and xenobiotics in 439 members of the Roma people, including 177 from the Balkans, 132
from Baranja and 130 from Međimurje. The aim was to determine how the populations'
genetic history, migration, and endogamy affect the distribution of alleles and haplotypes in
the genes studied. Of the 7 analyzed NAT1 gene loci three were polymorphic, and of the 6
analyzed NAT2 gene loci five were polymorphic. All polymorphic loci were in Hardy-
Weinberg equilibrium. The distribution of reconstructed NAT1 gene haplotypes did not show
population diversity, whereas in the distribution of NAT2 haplotypes a haplotype specific only
to the Roma population from Baranja was observed. Interpopulation methods found greater
diversity between populations in the NAT2 gene than in the NAT1 gene, as genetic distances
between Roma populations were also more pronounced in the NAT2 gene. The overall greater
diversity of the loci studied in the NAT2 gene than in the NAT1 gene is consistent with their
evolutionary patterns

• Keywords: zaliha gena; varijabilnost gena; metabolizam lijekova; genetička povijest
• Keywords (english): gene pool; gene variability; drug metabolism; genetic history
• Language: croatian
• URN:NBN: urn:nbn:hr:217:809550
• Study programme: Title: Biology; specializations in: Ecology; Course: Ecology; Study programme type: university; Study level: graduate; Academic / professional title: magistar/magistra biologije (magistar/magistra biologije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access; Embargo expiration date: 2021-09-19
• Created on: 2019-10-23 12:05:57