Preparing Triple-Compound Heterozygous Control Material for Molecular Diagnostics of TPMT Allelic Variants

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11150%2F15%3A10312364" target="_blank" >RIV/00216208:11150/15:10312364 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11160/15:10312364 RIV/00179906:_____/15:10312364

Result on the web

<a href="http://fb.cuni.cz/file/5777/fb2015a0012.pdf" target="_blank" >http://fb.cuni.cz/file/5777/fb2015a0012.pdf</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Preparing Triple-Compound Heterozygous Control Material for Molecular Diagnostics of TPMT Allelic Variants

Original language description

The aim of the study is to present a novel approach for preparing triple-compound heterozygous reference material (TCH-RM) for thiopurine S-methyltransferase (TPMT) genotyping by using the gene synthesis technology. The polynucleotide chain we prepared consisted of three wild-type and three mutant segments corresponding to the TPMT 238G>C, 460G>A, and 719A>G polymorphic sites. TCH-RM characteristics were assessed via four methods: reverse hybridization, real-time PCR with hydrolysis probes, real-time PCR followed by subsequent melting temperature analysis, and DNA sequencing. Consequently, we investigated the TPMT genotype of 371 patients suffering from autoimmune diseases requiring immunosuppressive therapy with thiopurine drugs, mostly inflammatory bowel disease. All methods confirmed the triple heterozygous character and commutability of TCH-RM. In evaluating its stability we obtained very comparable data before and after six months of storage at -80 degrees C. The determined genoty

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FE - Other fields of internal medicine

OECD FORD branch

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Project

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Continuities

S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2015

Confidentiality

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

Name of the periodical

Folia Biologica

ISSN

0015-5500

e-ISSN

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Volume of the periodical

61

Issue of the periodical within the volume

3

Country of publishing house

CZ - CZECH REPUBLIC

Number of pages

6

Pages from-to

91-96

UT code for WoS article

000358185100001

EID of the result in the Scopus database

2-s2.0-84938241929