Development and implementation of new molecular markers analyzes in myeloproliferative neoplasms without Philadelphia chromosome - Digital Medical Library

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

Author:

Link-Lenczowska, Dorota

Date:

Type:

Praca doktorska

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:

Level of degree:

2 - studia doktoranckie

Degree discipline:

Degree grantor:

Uniwersytet Jagielloński. Collegium Medicum. Wydział Lekarski.

Promoter:

Date issued:

Format:

application/pdf

Identifier:

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

Call number:

Access rights:

tylko w bibliotece

Location of original object:

Biblioteka Medyczna Uniwersytetu Jagiellońskiego- Collegium Medicum

Subject and keywords:

mieloproliferative neoplasms molecular diagnostics droplet-digital PCR molecular marker prognostic scale

Object collections:

Digital Medical Library > PhD thesis database

Last modified:

Apr 21, 2021

In our library since:

Apr 21, 2021

Number of object content hits:

2

All available object's versions:

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

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Edition name	Date
ZB-130320	Apr 21, 2021

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