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@proceedings{895309,
author = {Zrůstová Jana, and Flodrová, Eva and Juřica, Jan and Gaillyová, Renata and Žourková, Alexandra},
booktitle = {European Human genetics congres},
language = {eng},
title = {Detection of the polymorphisms in the CYP2D6 gene and their influence on metabolism of drugs},
url = {https://www.eshg.org/fileadmin/www.eshg.org/abstracts/ESHG2010Abstracts.pdf},
year = {2010}
}
TY - CONF
ID - 895309
AU - Zrůstová Jana,
AU - Flodrová, Eva - Juřica, Jan - Gaillyová, Renata - Žourková, Alexandra
PY - 2010
TI - Detection of the polymorphisms in the CYP2D6 gene and their influence on metabolism of drugs
UR - https://www.eshg.org/fileadmin/www.eshg.org/abstracts/ESHG2010Abstracts.pdf
N2 - patients. The cytochrome P450 2D6 (CYP2D6) is an enzyme responsible for metabolism of many commonly used drugs such as antidepressants, neuroleptics, beta blockers and antiarrhytmics. The gene CYP2D6 (22q13.1-13.1) that encodes this enzyme is highly polymorphic and shows a great inter-individual and inter-ethnic variability. The polymorphisms lead to different individual responses which result in an increased risk of adverse drug reactions or the lack of the therapeutical response. According to the enzymatic activity the Caucasian population can be classified into four subgroups - (1) poor metabolizers, who degradate the CYP2D6 substrates slowly and who are exposed to a greater incidence of side effects of therapy, (2) extensive metabolizers, their metabolism follows the presupposed mechanism, (3) intermediate metabolizers, the subgroup between poor and effective metabolizers, and (4) ultrarapid metabolizers, their metabolism is without adequate clinical response to common drug dosages. The influence of polymorphisms on paroxetine and risperidone treatment is studied at Department of Medical Genetics and Psychiatric clinic. Polymorphisms occuring in coding part of CYP2D6 gene are determinated by sequencing, Real Time PCR, High Resolution Melting analysis and agarose electrophoresis. This paper provides an overview of current technologies available for assessing CYP2D6 polymorphisms at Department of Medical Genetics. Supported by NS9676-4/2008
ER -
ZRŮSTOVÁ JANA, Eva FLODROVÁ, Jan JUŘICA, Renata GAILLYOVÁ a Alexandra ŽOURKOVÁ. Detection of the polymorphisms in the CYP2D6 gene and their influence on metabolism of drugs. In \textit{European Human genetics congres}. 2010.
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