Raznovrsnost alela i haplotipskih veza gena HLA-B*35 u populaciji Hrvatske

master's thesis

• Title (english): DIVERSITY OF ALLELES AND HAPLOTYPE CONNECTIONS OF GENE HLA-B*35 IN CROATIAN POPULATION
• Author: Mirta Sušec
• Mentor: Zorana Grubić (mentor)
• Committee member: Zorana Grubić (predsjednik povjerenstva)
• Committee member: Nada Oršolić (član povjerenstva)
• Committee member: Mladen Kučinić (član povjerenstva)
• Committee member: Gordana Lacković-Venturin (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2010-09-27, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

U ovom radu analizirali smo skupinu od 1020 nesrodnih ispitanika pozitivnih za gen HLA-B*35 i članove obitelji gdje je jedan od roditelja nositelj gena HLA-B*35 (N=50). Svi ispitanicima izolirana je DNA iz periferne krvi i testirani su za lokuse HLA-A, -B i –DRB1 metodom Luminex (srednje razlučivanje), a dio uzoraka (N=50) i metodom PCR-SSP za gen HLA-B*35 (visoko razlučivanje). Od 5 različitih alela gena HLA-B*35 uočenih u Hrvatskoj, najčešći j e bio HLA-B*35:01, zatim B*35:03, B*35:02 te B*35:08, dok je B*35:27 uočen samo jednom. Najčešća specifičnost na lokusu HLA-A unutar skupina HLA-B*35:01 i B*35:03 bila je HLA-A*02. Na lokusu HLA-DRB1 specifičnost HLA-DRB1*11 bila je najčešća među ispitanicima s alelima HLA-B*35:02 , B*35:03 i B*35:08, dok je u skupini HLA-B*35:01 ispitanika najčešća bila specifičnost HLADRB1* 01. Analiza haplotipskih veza HLA-A/B*35/DRB1 pokazala je da su slijedeće kombinacije bile najčešće: HLA-A*03/B*35:01/DRB1*01, HLA-A*02/B*35:02/DRB1*11, HLA-A*02/B*35:03/DRB1*11 i HLA-A*24/B*35:08/DRB1*11.

Abstract (english)

In this study we analyzed group of 1020 HLA-B*35 positive unrelated individuals and families with one of the parents HLA-B*35 positive (N=50). DNA from all subjects was isolated from peripheral blood and tested for HLA-A, -B, and –DRB1 by Luminex (medium resolution), while 50 samples were also typed by PCR-SSP for HLA-B*35 (high resolution). The most frequent allele of gene HLA-B*35 was HLAB* 35:01, followed by B*35:03, B*35:02 and B*35:08. We also observed one individual with B*35:27. The most common specificity at HLA-A locus among individuals positive for HLA-B*35:01 and B*35:03 was HLA-A*02. Among individuals positive for HLA-B*35:02, B*35:03 and B*35:08 the most present was HLA-DRB1*11 at HLADRB1 locus, while among B*35:01 individuals the most frequent was DRB1*01 specificity. Analysis of HLA-A/B*35/DRB1 haplotypic associations showed that the following combinations were the most common: HLA-A*03/B*35:01/DRB1*01, HLAA* 02/B*35:02/DRB1*11,HLA-A*02/B*35:03/DRB1*11 and HLA-A*24/B*35:08/DRB1*11.

• Keywords: HLA-B*35; haplotipske veze; populacijska istraživanja; Hrvati
• Keywords (english): HLA-B*35; haplotypic associations; population study; Croats
• Language: croatian
• URN:NBN: urn:nbn:hr:217:853936
• Study programme: Title: Experimental Biology; Study programme type: university; Study level: graduate; Academic / professional title: magistar/magistra eksperimentalne biologije (magistar/magistra eksperimentalne biologije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Access restricted to students and staff of home institution
• Created on: 2017-05-04 07:52:30