Molekularna istraživanja alela i haplotipova gena HLA-B*44 u hrvatskoj populaciji

master's thesis

• Title (english): Molecular study of HLA-B*44 alleles and haplotypes in the croatian population
• Author: Nikolina Špoljarić
• Mentor: Zorana Grubić (mentor)
• Committee member: Nada Oršolić (predsjednik povjerenstva)
• Committee member: Petra Korać (član povjerenstva)
• Committee member: Božena Mitić (član povjerenstva)
• Committee member: Duje Lisičić (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2015-02-20, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

U ovom radu analizirani su geni HLA (HLA-A, -B, -C i -DRB1) unutar 1727 nesrodnih dobrovoljnih darivatelja krvotvornih matičnih stanica iz Hrvatskog registra krvotvornih matičnih stanica (CBMDR), kao i haplotipovi gena HLA-B*44. Svi ispitanici testirani su metodom lančane reakcije polimerazom i početnicama specifičnim za pojedini alel ili skupinu alela (metode: PCR-SSP i PCR-SSO). Najčešći geni HLA bili su: HLA-A*02 (31,5%), B*35 (12,9%), C*07 (26,1%) i DRB1*11 (17,5%). Ukupno 316 ispitanika analizirano je za alele gena B*44 koji je jedan od pet najčešćih gena HLA-B u CBMDR-u. Najčešći alel bio je B*44:02 (41,4%), zatim B*44:03 (25,7%), B*44:27 (18,5%), B*44:05 (14,1%), dok je B*44:06 uočen samo kod jednog ispitanika. Analiza haplotipova pokazala je da su najčešći haplotipovi među B*44 pozitivnim ispitanicima: HLA-A*02:01-B*44:02-C*05:01- DRB1*04:01, HLA-A*23:01-B*44:03-C*04:01-DRB1*07:01, HLA-A*02:01-B*44:05- C*02:02-DRB1*16:01 i HLA-A*02:01-B*44:27-C*07:04-DRB1*16:01. Rezultati ovog istraživanja su u skladu s rezultatima objavljenim za druge europske populacije, osim za haplotip HLA-A*02:01-B*44:27-C*07:04-DRB1*16:01 koji je po prvi put opisan u ovom radu.

Abstract (english)

In this study we analyzed the HLA genes (HLA-A, -B, -C and -DRB1) among 1727 unrelated voluntary hematopoietic stem cells donors from the Croatian Bone Marrow Donor Registry (CBMDR), as well as HLA-B*44 haplotypes. All subjects were tested by polymerase chain reaction and primers specific for a particular allele or group of alleles (methods: PCR-SSP and PCR-SSO). The most common HLA genes were: HLA-A*02 (31.5%), B*35 (12.9%), C*07 (26.1%) and DRB1*11 (17.5%). Total of 316 patients were analyzed for alleles B*44, which is one of the most common HLA-B genes in CBMDR. The most common allele was B*44:02 (41.4%), followed by B*44:03 (25.7%), B*44:27 (18.5%), B*44:05 (14.1%), while B*44:06 was observed only in one patient. Haplotype analysis showed that the most common haplotypes among B*44 positive subjects were: HLA-A*02:01-B*44:02-C*05:01- DRB1*04:01, HLA-A*23:01-B*44:03-C*04:01-DRB1*07:01, HLA-A*02:01-B*44:05- C*02:02-DRB1*16:01 and HLA-A*02:01-B*44:27-C*07:04-DRB1*16:01. Results of this study are consistent with the results reported for other European populations, except for the haplotype HLA-A*02:01-B*44:27-C*07:04-DRB1*16:01, which was described for the first time in the present study.

• Keywords: geni HLA; B*44; haplotipovi HLA; neravnoteža udruživanja; populacijska istraživanja
• Keywords (english): HLA genes; B*44; HLA haplotypes; linkage disequilibrium; population research
• Language: croatian
• URN:NBN: urn:nbn:hr:217:334931
• 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: 2017-04-24 10:15:51