2006 - Institut für Klinische Chemie - UniversitätsSpital Zürich
2006 - Institut für Klinische Chemie - UniversitätsSpital Zürich
2006 - Institut für Klinische Chemie - UniversitätsSpital Zürich
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Universität <strong>Zürich</strong> > Medizinische Fakultät > <strong>Klinische</strong> <strong>Chemie</strong>, <strong>Institut</strong> <strong>für</strong> > Prof. Dr.<br />
Arnold von Eckardstein<br />
Pharmacogenetics<br />
Summary / Zusammenfassung<br />
Genetic polymorphisms inflluence the metabolism of drugs and may influence plasma levels upon<br />
standard dosage of a certain drug. Several inactivating mutations in metabolizing genes lead to<br />
increased drug levels often accompanied by toxic effects if drugs with a narrow therapeutic<br />
window are applied at a standard dose, or if several drugs are applied which are metabolized by the<br />
same enzyme. In contrast, some metabolizing enzymes display increased activity and some<br />
receptor genes bear mutations which may lead to a decreased pharmacological response upon<br />
standard dosage of a drug. We develop assays to detect polymorphisms in such genes and we<br />
combine pharmacogenetics and therapeutic drug monitoring to study the usefullness of these<br />
polymorphisms in the clinical setup.<br />
Publications / Publikationen<br />
L. Ji, S. Pan, J. Marti-Jaun, E. Hänseler, K. Rentsch and M. Hersberger. Single-Step Assays to<br />
Analyze CYP2D6 Gene Polymorphisms in Asians: Allele Frequencies and a Novel *14B Allele in<br />
Mainland Chinese. Clin Chem, 2002; 48, 983-988.<br />
M. Hersberger, J. Marti-Jaun, K. Rentsch and E. Hänseler. Two single-tube tetra-primer assays to<br />
detect the CYP2C19*2 and CYP2C19*3 alleles of the S-mephenytoin hydroxylase. Clin Chem,<br />
2001; 47: 772-774.<br />
M. Hersberger, J. Marti-Jaun, K. Rentsch, E. Hänseler. Rapid detection of the CYP2D6*3,<br />
CYP2D6*4, and CYP2D6*6 alleles by tertra-primer PCR and of the CYP2D6*5 allele by<br />
multiplex long PCR. Clin Chem, 2000; 46 (8): 1072-1077.<br />
Keywords / Suchbegriffe<br />
pharmacogenetics, CYP, TPMT, NAT2<br />
Project Leadership and Contacts / Projektleitung und Kontakte<br />
PD Dr. Katharina Rentsch (Project Leader) katharina.rentsch@ikc.usz.ch<br />
PD Dr. Martin Hersberger (Project Leader) hmr@ikc.uzh.ch<br />
Funding Source(s) / Unterstützt durch<br />
Others<br />
Duration of Project / Projektdauer<br />
Jan 2000 to Dec <strong>2006</strong><br />
Project 3272<br />
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