Istraživanje haplotipova HLA-B27 u bolesnika sa spondiloartropatijama u hrvatskoj populaciji

master's thesis

• Title (english): Research of haplotypes HLA-B27 in patients with spondyloarthropathies in Croatian population
• Author: Davor Štimac
• Mentor: Zorana Grubić (mentor)
• Mentor: Nada Oršolić (sumentor)
• Committee member: Zorana Grubić (predsjednik povjerenstva)
• Committee member: Nada Oršolić (član povjerenstva)
• Committee member: Željka Vidaković Cifrek (član povjerenstva)
• Committee member: Goran Kovačević (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2010, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

U ovom radu analizirali smo alele 5 mikrosatelita HLA (D6S248, D6S2674, D6S2811, STR_MICA i D6S273) među HLA-B27 pozitivnim nesrodnim osobama (N=94), bolesnicima s psorijatičnim artritisom (PsA) (N=22) i bolesnicima s juvenilnim spondiloartropatijama (jSpA) (N=29). U sve testirane skupine najučestaliji aleli bili su: D6S248-291pb, D6S2674-131pb, D6S2811-98pb i STR_MICA-A4, dok je na lokusu D6S273 najčešći alel među bolesnicima s jSpA i kontroli bio alel D6S273-4, a meĊu bolesnicima s PsA alel D6S273-5. Analizom bolesnika s PsA utvrdili smo da je alel D6S273-3 podložan za bolest, dok aleli D6S2811-126pb, D6S273-4, kao i haplotipska veza HLA-B*27/D6S273-4 pokazuju zaštitnu ulogu za razvoj bolesti. Među bolesnicima s jSpA otkrivena je smanjena učestalost alela D6S2674-131pb i dviju haplotipskih veza HLA-B*27/D6S2674-131 i HLA-B*27/D6S2811-98 što govori u prilog njihovoj zaštitnoj ulozi za razvoj bolesti, dok je za alel STR_MICA-A9 i haplotipsku vezu HLA-B*27/D6S248-291 utvrđena statistički značajno povišena učestalost što upućuje na zaključak da su podložni za razvoj jSpA.

Abstract (english)

In this study we analyzed the alleles of 5 HLA microsatellites (D6S248, D6S2674, D6S2811, STR_MICA and D6S273) among HLA-B27 positive, healthy individuals (N=94), patients with psoriatic arthritis (PsA) (N=22) and patients with juvenile spondyloarthropaties (jSpA) (N=29). The most common alleles in all tested groups were: D6S248-291pb, D6S2674-131pb, D6S2811-98pb and STR_MICA-A4 alleles, while at the D6S273 locus, the most common allele among patients with jSpA and controls was D6S273-4 allele and among patients with PsA D6S273-5 allele. The analysis of patients with PsA determined that D6S273-3 allele is associated with an increased risk for the disease, while D6S2811-126pb and D6S273-4 alleles, as well as HLA-B*27/D6S273-4 haplotypic association show a protective role for the development of the disease. A decreased frequency of D6S2674-131pb allele and HLA-B*27/D6S2674-131 and HLA-B*27/D6S2811-98 haplotypic associations was discovered among patients with jSpA which implies their protective role for the development of the disease. On the other hand, a statistically significant increase in frequency was determined for STR_MICA-A9 allele and the HLA-B*27/D6S248-291 haplotypic association which leads to the conclusion that they are involved in the development of jSpA.

• Keywords: mikrosateliti; haplotipovi HLA; gen HLA-B27; psorijatični artritis; juvenilne spondiloartropatije
• Keywords (english): microsatellite; haplotype HLA; HLA-B27 gene; psoriatic arthritis; juvenile spondyloarthropathy
• Language: croatian
• URN:NBN: urn:nbn:hr:217:192592
• Study programme: Title: Biology; specializations in: Molecular biology; Course: Molecular biology; 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
• Created on: 2018-04-04 10:24:44