diplomsko delo visokošolskega strokovnega študijskega programa I. stopnje
Amadeja Jeraj (Avtor), Uroš Potočnik (Mentor), Katja Repnik (Komentor), Maja Skerbinjek-Kavalar (Komentor)

Povzetek

Astma in atopijski dermatitis sta kompleksni alergijski bolezni, katerih prisotnost v današnjem razvitem svetu narašča. K razvoju obeh bolezni pripomore več različnih genov, bivalno okolje in način življenja posameznika. Namen raziskave je bil poiskati podobnosti in razlike v genetski arhitekturi astme in atopijskega dermatitisa. Na osnovi objavljenih študij smo izbrali tiste gene, ki so bili povezani z nastankom obeh boleznih ter analizirali genetske polimorfizme v izbranih genih pri slovenskih otrocih z astmo in/ali atopijskim dermatitisom. V našo študijo smo vključili 219 bolnikov in 97 zdravih posameznikov kot kontrolno skupino. Iz brisov ustne sluznice in krvnih limfocitov bolnikov ter zdravih posameznikov smo izolirali DNA molekule, na katerih smo genotipizirali izbrane polimorfizme genov STAT5B (rs9900213), TSLP (rs1898671) in STAT6 (rs324015). Genotipizacijo smo izvedli z metodoma qPCR-HRM in PCR-RFLP. Rezultate smo statistično analizirali s programom SPSS, kjer smo primerjali genotipske in alelne frekvence bolnikov in kontrol ter iskali povezavo med polimorfizmi in boleznima. V raziskovalni nalogi smo potrdili vpliv gena TSLP na razvoj astme. Sočasno smo ugotovili, nekoliko povišano frekvenco alela T polimorfizma rs9900213 v genu STAT5B pri astmatikih in bolnikih z atopijskim dermatitisom in pridruženo astmo, kar bi lahko povečalo tveganje za razvoj astme. Za boljše razumevanje povezave astme in atopijskega dermatitisa bi bile potrebne nadaljnje raziskave na večjem številu vzorcev. S tem bi dobili realnejšo sliko povezav med atopijskim dermatitisom in astmo, kar bi prispevalo k uspešnejšemu zdravljenju. Pridobljeni podatki lahko v prihodnosti prispevajo k razumevanju povezav med astmo in atopijskim dermatitisom.

Ključne besede

atopijski dermatitis;astma;asociacijska študija;polimorfizem posameznega nukleotida (SNP);kandidatni geni;diplomske naloge;

Podatki

Jezik: Slovenski jezik
Leto izida:
Tipologija: 2.11 - Diplomsko delo
Organizacija: UM FKKT - Fakulteta za kemijo in kemijsko tehnologijo
Založnik: [A. Jeraj]
UDK: 575.1:616-056.7(043.2)
COBISS: 24525059 Povezava se bo odprla v novem oknu
Št. ogledov: 604
Št. prenosov: 83
Ocena: 0 (0 glasov)
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Ostali podatki

Sekundarni jezik: Angleški jezik
Sekundarni naslov: Shared genetic characteristics of asthma and atopic dermatitis
Sekundarni povzetek: Asthma and atopic dermatitis are a complex allergic disease, the presence of which is increasing in today's developed world. To the development of this disease contributes several different genes, living environment and lifestyle of the individual. The purpose of the study was to find similarities in differences in the genetic architecture of asthma in atopic dermatitis. Based on the published study, we selected the appropriate genes, which were associated with the occurrence among both diseases, and analyzed genetic polymorphisms in selected genes in Slovenian children with asthma and / or atopic dermatitis. We included 219 patients and 97 healthy individuals as control groups in our study. DNA molecules were isolated from swabs of the oral mucosa and blood lymphocytes of patients and healthy individuals, on which selected polymorphisms of the STAT5B (rs9900213), TSLP (rs1898671) and STAT6 (rs324015) genes were genotyped. Genotyping was performed by qPCR-HRM and PCR-RFLP methods. The results were statistically analyzed with the SPSS program, where we compared the genotypic and allelic frequencies of patients and controls and looked for a link between polymorphisms and diseases. In a research paper, we confirmed the influence of the TSLP gene on the development of asthma. At the same time, we found a slightly increased frequency of the T allele of the rs9900213 polymorphism in the STAT5B gene in asthmatics and patients with atopic dermatitis and associated asthma, which could increase the risk of developing asthma.To better understand the link between asthma and atopic dermatitis, further research on a larger number of samples would be needed. This would give a more realistic picture of the links between atopic dermatitis and asthma, which would lead to more successful treatment. The data obtained may contribute in the future to understanding the link between asthma and atopic dermatitis.
Sekundarne ključne besede: atopic dermatitis;asthma;association studies;single nucleotide polymorphism (SNP);candidate genes;
Vrsta dela (COBISS): Diplomsko delo/naloga
Komentar na gradivo: Univ. v Mariboru, Fak. za kemijo in kemijsko tehnologijo
Strani: X, 33 f.
ID: 11879410