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Title: Development and implementation of new molecular markers analyzes in myeloproliferative neoplasms without Philadelphia chromosome

Abstract:

The aim of the dissertation was to develop and implement methods for detecting the V617F mutation in exon 14 of the JAK2 gene and mutations in exon 9 of the CALR gene, exon 10 of the MPL gene and exon 13 of the gene ASXL1, in patients with MPN Ph(-). The quantitative usefulness of molecular methods such as qPCR and ddPCR was compared in the diagnosis of the V617F mutation of the JAK2 gene. Both methods enabled detection of studied mutation and then tracking of the response to the treatment. Determination of the analytical sensitivity for both methods allowed to indicate the ddPCR as suitable for precise MRD monitoring. The development of DNA fragment length analysis and Sanger sequencing assays provided identification of the somatic mutations of the CALR gene. Implementation of HRM analysis for evaluation of changes in the MPL gene and sequencing of the ASXL1 gene with the simultaneous use of the MIPSS prognostic scale enabled stratification of risk in the course of PMF. The use of the MIPSS index, which takes into account molecular disturbances, gives the opportunity to implement a proper diagnostic and therapeutic procedure for patients with PMF.

Place of publishing:

Kraków

Level of degree:

2 - studia doktoranckie

Degree discipline:

hematologia

Degree grantor:

Uniwersytet Jagielloński. Collegium Medicum. Wydział Lekarski.

Promoter:

Tomasz Sacha

Date issued:

2018

Format:

application/pdf

Identifier:

oai:dl.cm-uj.krakow.pl:4419

Call number:

ZB-130320

Access rights:

tylko w bibliotece

Location of original object:

Biblioteka Medyczna Uniwersytetu Jagiellońskiego- Collegium Medicum

Object collections:

Last modified:

Apr 21, 2021

In our library since:

Apr 21, 2021

Number of object content hits:

1

All available object's versions:

http://dl.cm-uj.krakow.pl:8080/publication/4420

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ZB-130320 Apr 21, 2021
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