Analiza bioloških poti z uporabo orodij genske ontologije za gene povezane z astmo

diplomsko delo univerzitetnega študijskega programa I. stopnje

Marina Koren (Author), Uroš Potočnik (Mentor), Katja Repnik (Co-mentor)

Abstract

Povzetek Astma je kronična bolezen, pri kateri ima bolnik stalno prisotno vnetje dihalnih poti. To vnetje je povezano predvsem s preobčutljivostjo in preodzivnostjo dihal na različne dražljaje ali sprožilce v okolju, k nastanku bolezni pa prispeva tudi genetski zapis posameznika. Bolezen je vse pogostejša v razvitem svetu. Kljub temu da obstoječa terapija zagotavja uspešen nadzor nad boleznijo, delež bolnikov, ki se na zdravila ne odzivajo, ostaja razmeroma velik. Zato je nujen nadaljnji razvoj v smeri odkrivanja novih načinov zdravljenja. Velik napredek na področju genetike astme so prinesle asociacijske študije na celotnem genomu (GWAs, ang. za genome wide association studies), saj so odkrile več novih potencialnih genov, ki vplivajo na pojav astme. V diplomskem delu smo naredili obsežen pregled literature, s pomočjo katere smo iz GWA študij izpisali potencialne gene in polimorfizme posameznega nukleotida (SNP, ang. za single nucleotide polymorphism), ki so pokazali povezavo z razvojem astme. Nato smo z orodji genske ontologije prišli do ožjega izbora SNP-jev, iz katerega smo izbrali najprimernejši SNP za analizo pri slovenskih bolnikih z astmo in zdravih posameznikih. Pri eksperimentalnem delu smo uporabili metodo PCR-HRM, s katero smo genotipizirali izbran SNP. Na podlagi asociacijske študije smo ugotovili, da izbran SNP na genu IL33 ni povezan z astmo pri slovenskih otrocih. Glede na te rezultate bi bilo smiselno, da se seznam genov, ki smo ga po uporabi orodij genske ontologije dobili, uporabili za nadaljnje analize v tej smeri tako, da se analizira tudi druge gene in njihove SNP-je. Tako bi dobili širšo sliko o tem, kako se razvije astma in kakšni dejavniki na to najbolj vplivajo. Glede na ta spoznanja bi lahko nadgradili in razvili nova zdravila in načine zdravljenja, ki bi vse več bolnikom omogočili boljše in kvalitetnejše življenje kljub obolelosti za astmo.

Keywords

astma;GWA študije;HRM metoda;orodja genske ontologije;diplomske naloge;

Data

Language:	Slovenian
Year of publishing:	2017
Typology:	2.11 - Undergraduate Thesis
Organization:	UM FKKT - Faculty of Chemistry and Chemical Engineering
Publisher:	[M. Kresnik]
UDC:	575:616.248(043.2)
COBISS:	20695062
Views:	1306
Downloads:	78
Average score:	0 (0 votes)
Metadata:

Other data

Secondary language:	English
Secondary title:	The analysis of biological mechanisms by applying instruments of genetic ontology for asthma-related genes
Secondary abstract:	Abstract Asthma is a chronic disease. Patients suffer from temporary infection of respiratory system. This infection is mainly associated with the over-sensibility and over-reactivity of the respiratory system due to various environmental impacts or triggers, whereas the genetic code of an individuum is of crucial importance for the development of the disease. Prevalence of asthma is estimated to be increasing in the modern world. Although modern therapy methods enable effective control over the disease, the number of patients who don’t respond to medications stays relatively high. Further studies to find new treatment strategies are needed. Genome wide association studies have improved the findings in the field of genetics, as they have uncovered many potential genes potentially responsible for asthma. In present work we analysed a large amount of scientific papers on GWA studies and collected all potential genes and single nucleotide polymorphisms that were reported to be associated with asthma. The list of SNPs has been shortened with help of the gene ontology tools. The shortened list has provided the most suitable SNP for analysis in Slovene asthma patients and healthy individuals. Selected SNP has been genotyped using PCR-HRM method. The results have shown that there is no statistically significant association between selected SNP in the IL33 gene and Slovene asthma children. It is recommendable to use the listed genes for further analysis. This way we would get a stronger insight on how asthma appears and which major effects have the strongest influence on the disease. The existing medications could be improved and new ones could be developed in combination with treatments increasing the life quality of asthma patients.
Secondary keywords:	asthma;instruments of genetic ontology;GWA studies;HRM method;
URN:	URN:SI:UM:
Type (COBISS):	Bachelor thesis/paper
Thesis comment:	Univ. v Mariboru, Fak. za kemijo in kemijsko tehnologijo
Pages:	X, 48 str.
ID:	10845414