Raspodjela alela gena HLA-DRB1*04 kod osoba s povećanim rizikom za razvoj celijakije

master's thesis

• Title (english): The distribution of HLA-DRB1*04 alleles among individuals with an elevated risk for developing celiac disease
• Author: Laura Skukan
• Mentor: Zorana Grubić (mentor)
• Committee member: Zorana Grubić (predsjednik povjerenstva)
• Committee member: Ana Galov (član povjerenstva)
• Committee member: Ana Previšić (član povjerenstva)
• Committee member: Sunčica Bosak (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2019-02-13, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

U radu je analizirana raspodjeluaalela gena HLA-DRB1*04 i njihovih produženih haplotipova HLA DRB1*04~DQA1~DQB1 kod osoba s povećanim rizikom za razvoj celijakije (N=2009)
i kontrolnih zdravih ispitanika (N=571). Svim ispitanicima određeni su geni i aleli lokusa
HLA DRB1, DQA1 i DQB1 te produženi haplotipovi HLA DRB1*04~DQA1~DQB1
metodom lančane reakcije polimerazom i oligonukleotidnim probama specifičnih sekvenci
(PCR SSO) te metodom lančane reakcije polimerazom i početnicama specifičnih sekvenci
(PCR SSP). Najčešći alel u obje skupine bio je HLA DRB1*04:01 što je u skladu s
dosadašnjim istraživanjima. Alel HLA DRB1*04:50 otkriven je po prvi puta u hrvatskoj
populaciji i to u rizičnoj skupini ispitanika. Usporedbom rizične i kontrolne skupine uočena je
statistički značajno manja učestalost (P=0,0401) alela HLA DRB 1*04:02 u rizičnoj skupin i
(19,38 %%) u odnosu na kontrolu (28,57 %). Usporedba raspodjele produženih haplotipova
HLA DRB1*04~DQA1~DQB1 pokazala je da je haplotip
HLA DRB1*04:03~DQA1*03:01~DQB1*03:05 statistički značajno češći (P=0,0095) kod
zdravih ispitanika ( 30,00 %) u odnosu na rizičnu skupinu 7,69%).

Abstract (english)

The distribution of HLA-DRB1*04 alleles and HLA DRB1*04~DQA1~DQB1 haplotypes among individuals with risk for developing celiac disease (N=2009) and healthy controls
(N=571) was investigated in the present study. Genes and alleles at HLA DRB1, DQA1 and
DQB1 loci, as well as HLA DRB1*04~DQA1~DQB1 extended haplotypes were determined
for all individuals using polymerase chain reaction and sequence specific probes (PCR SSO)
method and polymerase chain reaction and sequence specific primers (PCR SSP) method.
The most frequent allele in both tested groups was HLA DRB1*04:01 which is in
concordance with previous findings. The HLA DRB1*04:50 allele was detected for the first
time in the Croatian population , more precisely, in the group of subjects with a risk for
developing celiac disease. The comparison of risk and control group revealed a significantly
lower frequency of HLA DRB1*04:02 allele in the risk group than among controls (19,4% vs.
28,6%; P=0.040 1). The analysis of the allele frequency at HLA DQA1 and DQB1 loci in the
HLA DRB1*04 extended haplotypes was conducted. The results of this analysis
demonstrated that HLA DRB1*04:03~DQA1*03:01~DQB1*03:05 haplotype occurs
significantly more frequently (P= 0.0095) among healthy individuals ( 30 ,00 %) than in the risk
group of subjects ( 7,69%).

• Keywords: Keywords: Celiac disease; HLA DRB1*04 alleles; HLA haplotypes
• Language: croatian
• URN:NBN: urn:nbn:hr:217:664570
• 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: Open access
• Created on: 2019-10-09 12:27:32