magistrsko delo
Danijela Vočanec (Author), Nataša Debeljak (Mentor), Nataša Debeljak (Thesis defence commission member), Tanja Kunej (Thesis defence commission member), Mojca Narat (Thesis defence commission member), Maja Čemažar (Thesis defence commission member), Tanja Kunej (Co-mentor)

Abstract

Eritrocitoza je opredeljena kot motnja s povišanim številom rdečih krvnih telesc in hkrati povišanimi vrednostmi hematokrita ter hemoglobina. Vzrok za primarno družinsko eritrocitozo (DE) tipa 1 (ECYT1) je mutacija v genu za eritropoetinski receptor (EPOR). V Sloveniji še ni uvedene diagnostične preiskave, ki bi zajemala testiranje gena EPOR, v zvezi s pojavom te bolezni. S sistematičnim pregledom literature smo zbrali 24 različic gena EPOR povezanih z DE, vse so v eksonu 8. Z uporabo orodij SIFT in PolyPhen smo določili 33 različic z največjim napovedanim učinkom na delovanje proteina, od katerih jih je bilo deset predhodno že povezanih z eritrocitozo. Optimizirali smo reakcijo PCR za pomnožitev eksona 8 gena EPOR. Primerjali smo nukleotidno zaporedje gena EPOR dveh bolnikov z eritrocitozo neznanega vzroka, dveh zdravih kontrol in referenčnega genoma. Razlik v nukleotidnem zaporedju nismo ugotovili, ter tako pri bolnikih izključili sum na ECYT1. Omogočili smo prenos nove diagnostične metode za odkrivanje DE v klinično uporabo v Specializiran hematološki laboratorij Kliničnega oddelka za hematologijo Univerzitetnega kliničnega centra Ljubljana.

Keywords

eritropoetinski receptor;gen;različice;sekvenciranje;družinska eritrocitoza;

Data

Language: Slovenian
Year of publishing:
Typology: 2.09 - Master's Thesis
Organization: UL MF - Faculty of Medicine
Publisher: [D. Vočanec]
UDC: 601.4:577.212.3(043.2)
COBISS: 9048185 Link will open in a new window
Views: 1288
Downloads: 324
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Other data

Secondary language: English
Secondary title: Analysis of genetic variability of erythropoietin receptor gene in familial erythrocytosis
Secondary abstract: Erythrocytosis is defined by an increased number of red blood cells and at the same time elevated levels of hematocrit and hemoglobin. The cause of primary family erythrocytosis (FE) type 1 (ECYT1) is the mutation in the erythropoietin receptor gene (EPOR). A diagnostic investigation has not yet been established in Slovenia, which would cover the testing of the EPOR gene in relation to the occurrence of this disease. We retrieved 24 polymorphisms of the EPOR gene associated with FE using systematic review of the literature; all of them located in exon 8. Using SIFT and PolyPhen tools we determined 33 missense variants with the highest predicted effect on protein function, which included ten variants previously associated with erythrocytosis. We optimized the PCR reaction for amplification of the exon 8 of the EPOR gene. The nucleotide sequence of the EPOR gene was analyzed and compared among two patients with idiopathic erythrocytosis, two healthy controls and the reference genome. We did not detect any nucleotide sequence differences, thereby excluding suspicion of ECYT1 in patients. We were able to transfer the new diagnostic method for the detection of FE in clinical use to the Specialized Hematology Laboratory of the Clinical Department of Hematology at the University Clinical Center Ljubljana.
Secondary keywords: erythropoietin receptor;gene;variations;sequencing;familial erythrocytosis;
Type (COBISS): Master's thesis/paper
Study programme: 0
Thesis comment: Univ. v Ljubljani, Biotehniška fak., Študij biotehnologije
Pages: XII, 35 f., [11] f. pril.
ID: 10960844