Title Učestalost dva najčešća podtipa gena HLA-B*27 kod ispitanika Splitsko-dalmatinske županije Title (english) Incidence of the two most common subtypes of HLA - B*27 gene in respondents of Split - Dalmatia county Author Ivana Pejić Mentor Esma Čečuk-Jeličić (mentor)Committee member Daniela Šupe-Domić (predsjednik povjerenstva)Committee member Ivana Franić (član povjerenstva)Committee member Esma Čečuk-Jeličić (član povjerenstva)Granter University of Split Defense date and country 2021-09-14, Croatia Scientific / art field, BIOMEDICINE AND HEALTHCARE Abstract Uvod: Sustav humanog leukocitnog antigena, koji se još naziva i glavnim kompleksom tkivne podudarnosti, jedan je od najviše opisanih i istraživanih genetskih sustava kod čovjeka. Ima svoj značaj u tome što kodira molekule zadužene za regulaciju imunoloških procesa i predočavanje endogenih i egzogenih antigena imunološkim stanicama (uglavnom limfocitima T). Sustav se nalazi na kratkom kraku kromosoma 6 a podijeljen je u tri razreda, koji su podijeljeni u lokuse. Sustav čini 1% cjelokupnog ljudskog genoma. Gen HLA – B*27 je gen iz razreda I sustava HLA za kojeg je dokazano da posjeduje povezanost sa brojnim autoimunim bolestima, u prvom redu reumatskim bolestima.
Cilj:U ovom radu analizirali smo učestalost najčešćih podtipova gena HLA – B*27 kod ispitanika sa područja Splitsko – dalmatinske županije korištenjem osnovnih statističkih formula i direktnim brojanjem.
Metode: Metode koje se koriste za dokazivanje gena HLA sustava su serološke i molekularne. Serološko testiranje uključuje test mikrolimfocitotoksičnosti, a molekularno testiranje uključuje metode PCR-SSO i PCR-SSP.
Rezultati: Podtip HLA – B*27:02 je bio prisutan kod najvećeg broja naših pacijenata, sa učestalošću od 43%, zatim slijedi HLA – B*27:05 sa nešto manjom učestalošću od 38%. Inače rijeđi alel, HLA – B*27:03, smo uočili kod naših pacijenata u malo većem broju, sa učestalošću od 18%, a iznimno rijedak alel HLA – B*27:08 utvrđen je kod jednog pacijenta (1%).
Rasprava: Proučavanjem učestalosti ustanovljenih alela gena HLA – B*27 u populacijama svijeta možemo reći da je učestalost najviše uočenih alela HLA – B*27:02 i HLA – B*27:05 unutar našeg uzorka jednaka sa učestalostima tih istih podtipova na području Europe. Podtip HLA – B*27:03 je u našem uzorku ustanovljen kod više pacijenata nego što je to bilo za očekivati, s obzirom da je njegova učestalost veća u nekim drugim dijelovima svijeta (Sjeverna Amerika) nego na području Europe. Podtip HLA – B*27:08 zamijećen je kod jednog pacijenta, a promatrajući njegovu svjetsku rasprostranjenost, ima malu zastupljenost na području Europe, osobito Španjolske.
Zaključak: Učestalost dva najčešća podtipa gena HLA – B*27 kod ispitanika na području Splitsko – Dalmatinske županije se ne razlikuje puno od globalne učestalosti najčešćih podtipova.
Abstract (english) Introduction: The human leukocyte antigen system, also known as the major histocompatibility complex, has long gone been described in literature, as one of the most researched systems in the field of genetics.. It has its significance in that it encodes molecules responsible for the regulation of immune processes and the presentation of endogenous and exogenous antigens to immune cells (mainly T lymphocytes). It is located on the short tail of the chromosome 6 and is divided into three classes, which are then divided into loci. It makes up for 1% of the entire human genome. The HLA - B * 27 gene, which is a class I gene in the HLA system, has previously been linked to a numerous autoimmune diseases, primearly to reumatoid diseases.
Methods: In this bachelor thesis, the frequency of the most common subtypes of the HLA - B * 27 gene in the population of the Split - Dalmatia County was analyzed with the usage of the basic statistical formulas and direct counting.
The methods used to detect HLA system genes are serological and molecular. Serological testing includes a microlymphocitotoxicity test, and molecular testing includes PCR-SSO and PCR-SSP methods.
Results : The HLA - B * 27: 02 subtype was present in the largest number of our patients, with a frequency of 43%, followed by HLA - B * 27: 05 with a slightly lower frequency of 38%. The otherwise rarer allele, HLA - B * 27: 03, was observed in our patients in a slightly higher number, with a frequency of 18%, and an extremely rare allele HLA - B * 27: 08 was found in one patient (1%).
Disscusion: By studying the frequencies of established alleles of the HLA - B * 27 gene in world populations, we can say that the frequency of the most observed HLA - B * 27: 02 and HLA - B * 27: 05 alleles within our sample is equal to the frequencies of these same subtypes in Europe. The HLA - B * 27: 03 subtype was found in our sample in more patients than expected, as its frequency is higher in some other parts of the world (North America) than in Europe. The HLA - B * 27: 08 subtype was observed in one patient, and observing its worldwide distribution, it has a small representation in Europe, especially in Spain.
Conclusion: The frequency of the two most common subtypes of the HLA - B * 27 gene in subjects in the Split - Dalmatia County does not differ much from the global frequency of the most common subtypes.
Keywords
Podtip
Gen HLA – B*27
Učestalost
Bolesti
Keywords (english)
Subtype
Gene HLA – B*27
Incidence
Diseases
Language croatian URN:NBN urn:nbn:hr:176:115284 Study programme Title: Medical Laboratory Diagnostics (university/undergraduate) Type of resource Text File origin Born digital Access conditions Open access Terms of use Created on 2021-09-20 12:31:27
