Uloga gena KIR na ishod haploidentične transplantacije krvotvornih matičnih stanica

master's thesis

• Title (english): The influence of KIR genes on the outcome of haploidentical haematopoietic stem cell transplantation
• Author: Paula Gršković
• Mentor: Zorana Grubić (mentor)
• Committee member: Zorana Grubić (predsjednik povjerenstva)
• Committee member: Inga Marijanović (član povjerenstva)
• Committee member: Dijana Škorić (član povjerenstva)
• Committee member: Vesna Benković (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2018-09-13, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

Cilj ovog rada bio je istražiti polimorfizam i raspodjelu alela i haplotipova HLA-A, -B, -C, -
DRB1 i -DQB1, gena i genotipova KIR i utjecaj gena KIR na ishod haploidentične
transplantacije krvotvornih matičnih stanica (TKMS) među bolesnicima u programu liječenja
haploidentičnom TKMS. Istraživanje je obuhvatilo 33 para (primatelj/davatelj). Učestalosti
alela HLA među bolesnicima u skladu su s učestalostima u kontroli, uz neke iznimke. Većina
bolesnika imala je barem jedan rijetki alel HLA (18; 54,5%) ili neuobičajeni haplotip HLAB~C (3; 9,1%) ili HLA-DRB1~DQB1 (4; 12,1%). Raspodjela gena KIR među bolesnicima
odgovarala je raspodjeli među kontrolnim ispitanicima, pri čemu su geni KIR2DS5 i KIR3DS1
bili statistički značajno zastupljeniji u skupini bolesnika (P=0,0032, odnosno P=0,00229).
Najčešće uočeni genotipovi KIR među bolesnicima bili su genotipovi AA1 i Bx2. Nije bila
opažena statistički značajna razlika u preživljenju bolesnika ovisno o prisutnosti određenog
aktivacijskog gena KIR u genotipu davatelja ni ovisno o genotipu KIR davatelja krvotvornih
matičnih stanica.

Abstract (english)

The aim of this thesis was to investigate the polymorphism and frequency of HLA-A, -B, -C, -
DRB1 and -DQB1 alleles and haplotypes, the polymorphism and frequency of KIR genes and
genotypes and the influence of KIR genes on the outcome of haploidentical haematopoietic
stem cell transplantation (HSCT) in patients included in the haploidentical HSCT program.
There were 33 patient/donor pairs included in the study. The frequency of HLA alleles among
patients matched the frequency in the control group, with some exceptions. Most patients had
at least one rare HLA allele (18; 54,5%) or an unusual HLA-B~C haplotype (3; 9,1%) or
HLA-DRB1~DQB1 haplotype (4; 12,1%). The frequency of KIR genes among patients
matched the frequency in the control group, although KIR2DS5 and KIR3DS1 genes were
significantly more frequent among patients (P=0,0032 and P=0,00229 respectively). The most
frequent KIR genotypes observed among patients were AA1 and Bx2. There was no
statistically significant difference in the survival of the patients depending on the presence of
any particular activating KIR gene in the genotype of the donor or on the KIR genotype of the
donor of haematopoietic stem cells.

• Keywords: geni KIR; stanice NK
• Keywords (english): KIR genes; NK cells
• Language: croatian
• URN:NBN: urn:nbn:hr:217:630931
• 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: Open access; Embargo expiration date: 2020-09-13
• Created on: 2018-10-09 09:51:44