Title Povezanost sustava HLA i Crohnove bolesti (obiteljska studija)
Title (english) Association between HLA variants and Crohn's disease (family study)
Author Meri Puđa
Mentor Esma Čečuk-Jeličić (mentor)
Committee member Daniela Šupe-Domić (predsjednik povjerenstva)
Committee member Sonja Jaman (član povjerenstva)
Committee member Esma Čečuk-Jeličić (član povjerenstva)
Granter University of Split (University Department of Health Studies) Split
Defense date and country 2024-07-02, Croatia
Scientific / art field, discipline and subdiscipline BIOMEDICINE AND HEALTHCARE Clinical Medical Sciences
Abstract : Sustav HLA (engl. H uman L eukocyte A ntigen) je glavni sustav tkivne snošljivosti kod čovjeka. Geni
sustava HLA nalaze se na kraćem kraku kromosoma 6 te se dijele na 3 razreda s pripadajućim lokusima. Razred I
čine lokusi: HLA A, HLA B, HLA Cw i dok gene razreda II čine lokusi HLA DR, HLA DQ, HLA DP. Osobitosti
ovog najsloženijeg genetskog sustava su izraziti polimorfizam, neravnoteža udruživanja, segregacija gena,
crossing over, populacijska specifičnost. Antigeni sustava HLA smatraju se značajnim čimbeni kom u
imunološkom odgovoru te obrani o rganizma. Najznačajniji su faktori u transplantaciji organa kao i u transplantaciji
krvotvornih matičnih stanica, u populacijskoj genetici te sudskoj medicini. Značaj sustava HLA očituje se u
povezanosti s bolestima tj. genetskoj predispoziciji za autoimune bolesti od kojih je najveća povezanost pokazana
s reumatološkim (reumatoidni artritis, psorijatični artritis, ankilozantni spondilitis), gastroenterološkim bo lestima
(celijakija, ulcerozni kolitis, Crohnova bolest) i endokrinološkim bolestima (diabetes m ellitus, Hashimotova
bolest). Cilj ovog rada bio je istražiti povezanost gena HLA s Crohnovom bolešću i time utvrditi njihovu važnost
u dijagnostici i utjecaj na razvoj ove bolesti. Crohnova bolest je kronična, upalna autoimuna bolest crijeva
nepoznate eti ologije koja se očituje različitom skupinom simptoma. Osim genetskih faktora, smatra se da neki
okolišni čimbenici utječu na razvoje bolesti zajedno sa životnim navikama i stresom. U ovom radu prikazana je
obiteljska studija pacijentice s Crohnovom bolesti i članova obitelji, kojima smo molekularnom metodom
PCRSSO (engl. P olymerase C hain R eaction S equence S pecific O ligonucleotides ) odredili alele razreda I i II.
Rezultati ovoga istraživanja su pokazali da sestra koja boluje od Crohnove bolesti nosi haplotip HLA C*04,
DRB*16, DQA1*01, DQB1*05 koji je naslijedila od oca.
Abstract (english) : The human leukocyte antigen (HLA) system (the major histocompatibility system [MHC] in humans)
is the main system of tissue tolerance in humans. The genes controlling expression of HLA system molecules are
located on chromosome 6 and are divided into 3 classes. Class I is made up of loci: HLA A, HLA B, HLA Cw
while class II consists of HLA DR, HLA DQ and HLA DP loci. Main characteristics of this most complex genetic
system in humans are extreme gene polymorphism, linkeage disequilibrium, gene segregation, crossing over and
population specificity. HLA antigens are one of the most significant factors in solid organ transplantation as well
as hematopoieti c stem cell transplantation. Another major importance of HLA system is shown in clinical
diagnostics specific HLA alelles are linked to autoimmune disorders, with the greatest association shown between
rheumatic (rheumatoid arthritis, psoriatic arthritis , ankylosing spondylitis), gastrointestinal (celiac disease,
ulcerative colitis, Crohn's disease) and endocrine diseases (diabetes mellitus, Hashimoto's disease). The aim of this
paper was to investigate the association of HLA genes with Crohn's disease an d thereby determine their importance
in disease diagnostics and influence on the development of this disease. Chron's disease is a chronic, inflammatory
autoimmune bowel disease of unknown etiology which is manifested by a different group of symptoms. Othe r than
genetic factors, it is believed that some environmental factors influence the development of the disease together
with lifestyle habits and stress. This paper presents a family study of a patient with Crohn's disease and family
members where class I and II alelles were determined with PCR SSO (engl. P olymerase C hain R eaction S equence
S pecific O ligonucleotides) method. The results of this research showed that the sister suffering from Crohn's
disease carries the haplotype HLA C*04, DRB*16, DQA1*01, DQB1*05 inherited from her father.
Keywords:
Keywords
HLA
aleli
geni
Crohnova bolest
PCR SSO
Keywords (english)
HLA system
HLA genes
Crohn's disease
PCR SSO (engl.
Language croatian
URN:NBN urn:nbn:hr:176:431908
Study programme Title: Undergraduate University Study Programme of Medical Laboratory Diagnostics Study programme type: university Study level: undergraduate Academic / professional title: sveučilišni prvostupnik/prvostupnica (baccalaureus/baccalaurea) medicinske laboratorijske dijagnostike (sveučilišni prvostupnik/prvostupnica (baccalaureus/baccalaurea) medicinske laboratorijske dijagnostike)
Type of resource Text
File origin Born digital
Access conditions Open access
Terms of use
Created on 2024-07-02 11:14:04