Genotipizacija obitelji oboljelih od opsesivno-kompulzivnog poremećaja

master's thesis

• Title (english): Genotyping of families with obssesive-compulsive disorder
• Author: Martina Čonda
• Mentor: Domagoj Đikić (mentor)
• Committee member: Domagoj Đikić (predsjednik povjerenstva)
• Committee member: Martina Šeruga Musić (član povjerenstva)
• Committee member: Gordana Lacković-Venturin (član povjerenstva)
• Committee member: Maja Matulić (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2014-02-13, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

Opsesivno-kompulzivni poremećaj (engl. Obsessive-compulsive disorder, OCD) je psihička bolest koja je okarakterizirana prisustvom opsesija i/ili kompulzija. Prema dosad objavljenim istraživanjima o uzroku nastanka OCD, smatra se da genetske varijacije, koje utječu na poremećaj homeostaze glutamat neurotransmisije potencijalno sudjeluje u patofiziologiji OCD. Glavni cilj ovog rada je pronaći povezanost pet odabranih polimorfizama jednog nukleotida (engl. single-nucleotide polymorphism, SNP); rs301443 (G/C), rs12682807 (A/C), rs11081062 (C/T), rs11663827 (A/G) i rs1556995 (G/A), i triju gena kandidata glutamat neurotransmisije; SLC1A1, DPGAP1, GRIK2 sa nastankom ranog oblika OCD koristeći uzorke obitelji oboljelih i kontrole. Dobiveni rezultati triju predloženih genskih rizičnih varijanti ne podržavaju ulogu u nastanku ranog oblika OCD i povezanosti sa kliničko patološkim obilježjima.

Abstract (english)

Obsessive-compulsive disorder (OCD), a neuropsychiatric disorder, is characterized by the presence of obsessions and/or compulsions. According to previous publications association of genetic variations in glutamatergic genes with OCD are considered that may potentially contribute to the pathophysiology of OCD. The main aim of this thesis was to provide confirmatory evidence for association of five selected single nucleotide polymorphism (SNP); rs301443 (G/C), rs12682807 (A/C), rs11081062 (C/T), rs11663827 (A/G) and rs1556995 (G/A) from a three glutamatergic candidate genes; SLC1A1, DPGAP1, GRIK2 with early-onset OCD using family-based study and case-control study. The current study could not confirm the previous findings of these three candidate genes as risk variants in early-onset OCD.

• Keywords: rano pojavljivanje bolesti; glutamat; SLC1A1; DLGAP1; GRIK2; polimofizam
• Keywords (english): arly-onset; glutamate; SLC1A1; DLGAP1; GRIK2; polymorphisms
• Language: croatian
• URN:NBN: urn:nbn:hr:217:314627
• Study programme: Title: Molecular Biology; Study programme type: university; Study level: graduate; Academic / professional title: magistar/magistra molekularne biologije (magistar/magistra molekularne biologije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Access restricted to students and staff of home institution
• Created on: 2017-04-26 08:46:39