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master's thesis
Otkrivanje mutacije eksona 12 NPM1 gena u akutnim mijeloičnim leukemijama
Zagreb: University of Zagreb, Faculty of Science, 2010. urn:nbn:hr:217:904093
Crnčec, Ilija
University of Zagreb
Faculty of Science
Department of Biology

Institutional repository: Repository of the Faculty of Science

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Crnčec, I. (2010). Otkrivanje mutacije eksona 12 NPM1 gena u akutnim mijeloičnim leukemijama (Master's thesis). Zagreb: University of Zagreb, Faculty of Science. Retrieved from https://urn.nsk.hr/urn:nbn:hr:217:904093

Crnčec, Ilija. "Otkrivanje mutacije eksona 12 NPM1 gena u akutnim mijeloičnim leukemijama." Master's thesis, University of Zagreb, Faculty of Science, 2010. https://urn.nsk.hr/urn:nbn:hr:217:904093

Crnčec, Ilija. "Otkrivanje mutacije eksona 12 NPM1 gena u akutnim mijeloičnim leukemijama." Master's thesis, University of Zagreb, Faculty of Science, 2010. https://urn.nsk.hr/urn:nbn:hr:217:904093

Crnčec, I. (2010). 'Otkrivanje mutacije eksona 12 NPM1 gena u akutnim mijeloičnim leukemijama', Master's thesis, University of Zagreb, Faculty of Science, accessed 23 December 2024, https://urn.nsk.hr/urn:nbn:hr:217:904093

Crnčec I. Otkrivanje mutacije eksona 12 NPM1 gena u akutnim mijeloičnim leukemijama [Master's thesis]. Zagreb: University of Zagreb, Faculty of Science; 2010 [cited 2024 December 23] Available at: https://urn.nsk.hr/urn:nbn:hr:217:904093

I. Crnčec, "Otkrivanje mutacije eksona 12 NPM1 gena u akutnim mijeloičnim leukemijama", Master's thesis, University of Zagreb, Faculty of Science, Zagreb, 2010. Available at: https://urn.nsk.hr/urn:nbn:hr:217:904093

Metadata
TitleOtkrivanje mutacije eksona 12 NPM1 gena u akutnim mijeloičnim leukemijama
Title (english)Detection of mutation in exon 12 of the NPM1 gene in acute myelogenous leukemias
AuthorIlija Crnčec
MentorRajko Kušec (mentor)
MentorNada Oršolić (sumentor)
Committee memberVlatka Zoldoš (predsjednik povjerenstva)
Committee memberDomagoj Đikić (član povjerenstva)
GranterUniversity of Zagreb
Faculty of Science
(Department of Biology)
Zagreb
Defense date and country2010, Croatia
Scientific / art field,
discipline and subdiscipline		NATURAL SCIENCES
Biology
Abstract
Mutacije eksona 12 gena NPM1 najčešća su genetička aberacija u akutnim mijeloičnim leukemijama s normalnim kariotipom, čineći 50 – 60% slučajeva. Do sada je identificirano 40-tak tipova mutacija. Fragmentalnom analizom ispitali smo 60 uzoraka primarne i sekundarne akutne mijeloične leukemije na ovu mutaciju. Dvanaest pozitivnih uzoraka (20%) nakon druge lančane reakcije polimerazom direktno smo sekvencirali i utvrdili 4 tipa mutacija – 8 tipa A, 2 tipa D i po 1 tipa H i Nm. Uzorke smo lančanom reakcijom polimerazom ispitali i na postojanje mutacije FLT3 ITD i utvrdili da se ova mutacija javlja više nego dvostruko češće u uzorcima pozitivnim na mutaciju eksona 12 gena NPM1.
Abstract (english)
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.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:217:904093
Study programmeTitle: Biology; specializations in: Molecular biology
Course: Molecular biology
Study programme type: university
Study level: graduate
Academic / professional title: magistar/magistra biologije (magistar/magistra biologije)
Type of resourceText
File originBorn digital
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2018-03-23 09:03:40