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CEBPA Gene mutational status A complete screening using high-resolution melt curve analysis

Basic information
Original title:CEBPA Gene mutational status A complete screening using high-resolution melt curve analysis
Authors:Filip Rázga, Dana Dvořáková, Tomáš Jurček, Ivana Ježíšková, Zlatuše Křístková, Jiří Mayer
Further information
Citation:RÁZGA, Filip, Dana DVOŘÁKOVÁ, Tomáš JURČEK, Ivana JEŽÍŠKOVÁ, Zlatuše KŘÍSTKOVÁ a Jiří MAYER. CEBPA Gene mutational status A complete screening using high-resolution melt curve analysis. Molecular diagnosis and therapy, 2009, roč. 13, č. 3, s. 195-200. ISSN 1177-1062.Export BibTeX
@article{841778,
author = {Rázga, Filip and Dvořáková, Dana and Jurček, Tomáš and Ježíšková, Ivana and Křístková, Zlatuše and Mayer, Jiří},
article_number = {3},
keywords = {acute myeloid leukemia; CEBPA mutation},
language = {eng},
issn = {1177-1062},
journal = {Molecular diagnosis and therapy},
title = {CEBPA Gene mutational status A complete screening using high-resolution melt curve analysis},
volume = {13},
year = {2009}
}
Original language:English
Field:Oncology and hematology
Type:Article in Periodical
Keywords:acute myeloid leukemia; CEBPA mutation

In recent years, several independent prognostic factors in cytogenetically normal acute myeloid leukemia (CN-AML) have been reported. Mutations or the expression levels of certatin genes have been often used as molecular markers for preidiction of a patients outcome or for evaluation of treatment outcome. One of them, the gene encoding CCAAT/enhanced binding protein alpha (CEBPA), plays an important role in myeloid differentiation and, whn mutated, confers a favorable prognosis for patients with CN-AML. Complete mutation screening of the CEBPA gene is therefore beneficial and requires fast, precise, and sensitive diagnostic tools. Thus, for routine diagnostics, we developed a screening method using high-resolution melt curve analysis prior to direct sequencing, where only positive samples (according to reference) are further sequenced. With this approach, all positive and negative patients were successfully distinguished, and the results obtained were in absolute concordance with the direct sequence analysis.

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