Detection of mutation in exon 12 of the NPM1 gene in acute myelogenous leukemias

Crnčec, Ilija (2010) Detection of mutation in exon 12 of the NPM1 gene in acute myelogenous leukemias. Diploma thesis, Faculty of Science > Department of Biology.

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Abstract

Mutations in exon 12 of the NPM1 gene are the most frequent genetic aberration in acute myelogenous leukemias with a normal karyotype, representing 50 – 60% of the cases. So far around 40 types of mutations have been identified. We screened 60 cases of primary and secondary acute myelogenous leukemia for mutation using Genescan analysis . Twelve samples (20%) proved to be positive so we further examined them by amplifying them with a second polymerase chain reaction and directly sequencing them, detecting 4 types of mutations – 8 type A, 2 type D and H and Nm. We also screened the samples for the FLT3 ITD mutation, using polymerase chain reaction, determining that this mutation is detectable more than twice as often in samples positive for mutations in exon 12 of the NPM1 gene.

Item Type: Thesis (Diploma thesis)
Keywords: nucleophosmin, Genescan analysis, sequencing, FLT3 ITD
Supervisor: Kušec, Rajko
Co-supervisor: Oršolić, Nada
Date: 2010
Number of Pages: 42
Subjects: NATURAL SCIENCES > Biology
Divisions: Faculty of Science > Department of Biology
Depositing User: Silvana Šehić
Date Deposited: 08 Sep 2014 11:33
Last Modified: 08 Sep 2014 11:33
URI: http://digre.pmf.unizg.hr/id/eprint/2659

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