Application of denaturing capillary electrophoresis for the detection of prognostic mutations in isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2 genes in brain tumors.

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F26475821%3A_____%2F18%3AN0000006" target="_blank" >RIV/26475821:_____/18:N0000006 - isvavai.cz</a>

Alternative codes found

RIV/61383082:_____/18:00000400 RIV/00216208:11110/18:10377123 RIV/00216208:11310/18:10377123

Result on the web

<a href="https://onlinelibrary.wiley.com/doi/abs/10.1002/jssc.201701473" target="_blank" >https://onlinelibrary.wiley.com/doi/abs/10.1002/jssc.201701473</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1002/jssc.201701473" target="_blank" >10.1002/jssc.201701473</a>

Result language

angličtina

Original language name

Application of denaturing capillary electrophoresis for the detection of prognostic mutations in isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2 genes in brain tumors.

Original language description

Malignant transformation in gliomas is frequently supplemented by somatic mutations in isocitrate dehydrogenase 1 and isocitrate dehydrogenase 2 genes. It has recently emerged that mutations in these genes are associated with prolonged survival and should be used as prognostic factor in management of brain cancer patients. There are several approaches in use for the detection of isocitrate dehydrogenase 1 and 2 mutations; however, these often exhibit shortcomings such as convoluted protocols with long processing time, complex (and costly) dedicated fluorescent probes, and/or demand on amounts of input DNA. Therefore, a simple and rapid method would be highly desired. Here, we present development and validation of simple and reliable isocitrate dehydrogenase 1 and 2 mutation detection assay using denaturing capillary electrophoresis. The detection sensitivity in terms of the limiting mutated allele fraction detectable estimated from a series of dilution runs was 2.9%. The method was validated by comparing to results obtained by a widely accepted detection technique, the multiplex ligation-dependent probe amplification, on a set of 85 brain tumors. The concordance of both methods was 100%, but denaturing capillary electrophoresis assay required fivefold lower input of DNA (1 versus 5 μL of DNA at concentrations typically between 10 and 30 ng/μL).

Czech name

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Czech description

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Type

J_SC - Article in a specialist periodical, which is included in the SCOPUS database

CEP classification

—

OECD FORD branch

30403 - Technologies involving identifying the functioning of DNA, proteins and enzymes and how they influence the onset of disease and maintenance of well-being (gene-based diagnostics and therapeutic interventions [pharmacogenomics, gene-based therapeutics])

Project

<a href="/en/project/NV17-31909A" target="_blank" >NV17-31909A: Development of a New Generation Multiparametric Test for Prediction of Colorectal Neoplasia Recurrence</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2018

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Journal of Separation Science

ISSN

1615-9306

e-ISSN

1615-9314

Volume of the periodical

41

Issue of the periodical within the volume

13

Country of publishing house

DE - GERMANY

Number of pages

9

Pages from-to

2819-2827

UT code for WoS article

000437286900015

EID of the result in the Scopus database

2-s2.0-85049524801