Dokazivanje varijantnih translokacija Ph kromosoma metodom interfazne fluorescencijske hibridizacije in situ (FISH)

master's thesis

• Title (english): Detection of variant Ph chromosome translocations by interphasic fluorescence hybridization in situ (FISH)
• Author: Magdalena Jurić
• Mentor: Sanja Davidović-Mrsić (mentor)
• Mentor: Inga Marijanović (mentor)
• Committee member: Inga Marijanović (predsjednik povjerenstva)
• Committee member: Sanja Davidović-Mrsić (član povjerenstva)
• Committee member: Tatjana Bakran-Petricioli (član povjerenstva)
• Committee member: Maja Matulić (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2013-07-08, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

Kronična mijeloična leukemija (KML) je mijeloproliferativni poremećaj, karakteriziran prisutnošću Philadelphia (Ph) kromosoma, koji je rezultat recipročne translokacije između kromosoma 9 i 22, t(9;22)(q34;q11). Molekularna posljedica ove translokacije je konstitutivno aktivni tirozin kinazni protein BCR-ABL1, koji uzrokuje KML fosforilacijom brojnih nizvodnih proteina uključenih u stanični rast i apoptozu. Smatra se da velika većina pacijenata (95%) s KML-om pokazuje prisutnost klasične translokacije t(9;22)(q34;q11), te da su varijantne translokacije prisutne u 5-10% pacijenata s KML-om. U tim slučajevima, u translokaciju su uključeni dodatni jedan ili više kromosoma, uz kromosome 9 i 22. Cilj rada je dokazati prisutnost varijantnih translokacija Ph kromosoma pomoću interfazne fluorescencijske hibridizacije in situ (I-FISH) u pacijenata s kroničnom mijeloičnom leukemijom pri dijagnozi, korištenjem probe LSI BCR/ABL Dual Color, Dual Fusion.

Abstract (english)

Chronic myeloid leukemia (CML) is a myeloproliferative disorder characterized by the presence of the Philadelphia (Ph) chromosome, which is the result of the reciprocal translocation between chromosome 9 i 22, t(9;22)(q34;q11). The molecular consequence of this translocation is constitutively active protein tyrosine kinase BCR-ABL1, which causes CML by phosphorylating numerous downstream proteins involved in cell growth and apoptosis. It is considered that the vast majority of patients with CML show classical t(9;22)(q34q11) translocation and that in 5-10% CML cases variant Ph translokations are present. In these cases, one or more additional chromosomes are added to 9 and 22 chromosomes in translocation. The aim of this paper is to detect variant Ph chromosome translocations by interphasic fluorescence hybridization in situ (I-FISH) in patients with chonic myeloid leukemia at diagnosis, using LSI BCR/ABL Dual Color, Dual Fusion probe.

• Keywords: KML; BCR-ABL1 gen; varijantne translokacije Ph kromosoma; FISH; proba
• Keywords (english): CML; BCR-ABL1 gene; variant Ph chromosome translocations; FISH; probe
• Language: croatian
• URN:NBN: urn:nbn:hr:217:078728
• 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: 2017-04-27 08:50:30