Naslov Raznolikost gena HLA-DRB4 u Hrvatskoj Naslov (engleski) Polymorphism of HLA-DRB4 gene in Croatia Autor Leona Radmanić Mentor Zorana Grubić (mentor)Mentor Ana Galov (mentor)Član povjerenstva Ana Galov (predsjednik povjerenstva)Član povjerenstva Renata Šoštarić (član povjerenstva)Član povjerenstva Petra Korać (član povjerenstva)Član povjerenstva Nada Oršolić (član povjerenstva)Ustanova koja je dodijelila Sveučilište u Zagrebu Datum i država obrane 2017-02-24, Hrvatska Znanstveno / umjetničko PRIRODNE ZNANOSTI Sažetak U ovom istraživanju analiziran je polimorfizam gena HLA-DRB4 i haplotipova HLA-DRB1-DRB4 u Hrvatskoj među kadaveričnim davateljima organa (N=144). Svi uzorci bili su odabrani na temelju prisustva jednog od alela skupine HLA-DRB53 (aleli DRB1*04, DRB1*07 i DRB1*09). Određivanje alela lokusa HLA-DRB4 provedeno je metodom lančane reakcije polimerazom i početnicama specifičnim za jedan ili više alela HLA (engl. Polymerase Chain Reaction–Sequence Specific Primers, PCR-SSP). Aleli lokusa HLA-DRB1 i -DQB1 određeni su metodom lančane reakcije polimerazom i probama specifičnim za jedan ili grupu alela HLA (engl. Polymerase Chain Reaction–Sequence Specific Oligos, PCR-SSO). Na lokusu HLA-DRB4 otkriveno je sedam različitih alela, 5 funkcionalnih alela (DRB4*01:01:01:01, DRB4*01:02, DRB4*01:03, DRB4*01:05 i DRB4*01:08) i dva nul alela (DRB4*01:03:01:02N i HLA-DRB4*03:01N). Među ispitanicim pozitivnim za jedan od alela skupine HLA-DRB1*04 nije otkrivena statistički značajna razlika u raspodjeli alela DRB4 s obzirom na prisustvo alela DQB1. U haplotipovima HLA-DRB1*04-DQB1 najčešći prisutni alel je bio DRB4*01:03 (86,7%). Među HLA-DRB1*07:01 pozitivnim haplotipovima uočena je statistički značajna razlika (p<0,05) u raspodjeli alela HLA-DRB4 s obziroma na prisustvo alela HLA-DQB1. Haplotipovi: HLA-DRB1*07:01-DQB1*03:03 na lokusu HLA-DRB4 u 98,0% slučajeva imali su nul alel DRB4*01:03:01:02N, dok su haplotipovi DRB1*07:01-DQB1*02:02 na lokusu DRB4 u 65,5% slučajeva imali prisutan alel DRB4*01:03. Unutar skupine HLA-DRB1*04 pozitivnih haplotipova nije uočena statistički značajna razlika u raspodjeli alela HLA-DRB4 s obzirom na prisustvo alela HLA-DQB1. Alel HLA-DRB1*09:01 je kod svih ispitanika uočen u kombinaciji s alelima HLA-DRB4*01:03-DQB1*03:03.
Sažetak (engleski) In this study the polymorphism of HLA-DRB4 alleles and HLA-DRB1-DRB4 haplotypes among Croatian cadaveric organ donors (N = 144) was analyzed. All samples were selected based on the presence of one of the alleles of HLA-DRB53 group (DRB1*04, DRB1*07, and DRB1*09 alleles). Typing of HLA-DRB4 alleles was carried out by polymerase chain reaction sequence specific primers for one or more HLA alleles (method: PCR-SSP). HLA-DRB1 and -DQB1 alleles were determined by polymerase chain reaction sequence specific oligos for one allele or a group of HLA alleles (method: PCR-SSO). On the HLA-DRB4 locus seven different alleles were discovered; 5 functional alleles (DRB4*01:01:01:01, DRB4*01:02, DRB4*01:03, DRB4*01:05, and DRB4*01:08) and two null alleles (DRB4*01:03:01:02N and HLA-DRB4*03:01N). Among individuals positive for one of the HLA-DRB1*04 alleles no statistically significant difference was detected in the distribution of the HLA-DRB4 alleles given the presence of the DQB1 alleles. Among HLA-DRB1*04-DQB1 haplotypes the most present was DRB4*01:03 allele (86.7%). Among HLA-DRB1*07:01 positive haplotypes a statistically significant difference (p<0.05) in the distribution of HLA-DRB4 alleles due to the presence of different HLA-DQB1 alleles was observed. The HLA-DRB1*07:01-DQB1*03:03 haplotype in 98.0% of cases had the DRB4*01:03:01:02N allele on the HLA-DRB4 locus, while DRB1*07:01-DQB1*02:02 haplotype on the HLA-DRB4 locus in 65.5% of cases had the DRB4*01:03 allele (65.5%). Within the group of the HLA-DRB1*04 positive haplotype, there was no statistically significant difference in the distribution of HLA-DRB4 alleles due to the presence of different HLA-DQB1 alleles. The HLA-DRB1*09:01 allele was observed in combination: HLA-DRB4*01:03-DQB1*03:03 in all the cases.
Ključne riječi
geni HLA-DRB4
polimorfizam
haplotipovi HLA
neravnoteža udruživanja
Ključne riječi (engleski)
HLA-DRB4 gene
HLA haplotypes
polymorphism
linkage disequilibrium
Jezik hrvatski URN:NBN urn:nbn:hr:217:497638 Studijski program Naziv: Eksperimentalna biologija Vrsta resursa Tekst Način izrade datoteke Izvorno digitalna Prava pristupa Otvoreni pristup Uvjeti korištenja Datum i vrijeme pohrane 2017-04-20 12:16:35
