Pharmacogenomic genotyping methodologies

Verfasser / Beitragende:
[Paul J. Jannetto, Elvan Laleli-Sahin, Steven H. Wong]
Ort, Verlag, Jahr:
2004
Enthalten in:
Clinical Chemistry and Laboratory Medicine, 42/11(2004-11-01), 1256-1264
Format:
Artikel (online)
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024 7 0 |a 10.1515/CCLM.2004.246  |2 doi 
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245 0 0 |a Pharmacogenomic genotyping methodologies  |h [Elektronische Daten]  |c [Paul J. Jannetto, Elvan Laleli-Sahin, Steven H. Wong] 
520 3 |a "Personalized medicine” based on an individual's genetic makeup is slowly becoming a reality as pharmacogenomics moves from the research setting to the clinical laboratory. Concordance studies between genotype and phenotype have shown that inherited mutations in several key drug-metabolizing enzymes, such as cytochrome P450 (CYP) 2D6, 2C9, and 2C19, result in several distinct phenotypes that lead to different individual responses following drug administration. One of the major driving forces behind pharmacogenomics and its ability to be used effectively are the technologies that are available. A beneficial genotyping test must identify most or all of the mutations that have a significant impact on the expression or function of drug-metabolizing enzymes, transporter proteins, and/or drug receptors. Selection of the appropriate technology will be based on several issues, including prior knowledge of the mutation/polymorphism, sensitivity/specificity, sample requirements, and cost. Since the future volume of pharmacogenomic testing is anticipated to be large, automation of pharmacogenomics will also become increasingly important. This paper provides an overview of current technologies available for assessing polymorphisms on a small- to large-scale basis. 
540 |a © Walter de Gruyter 
690 7 |a Medical equipment & techniques  |2 nationallicence 
690 7 |a Medical diagnosis  |2 nationallicence 
690 7 |a Diseases & disorders  |2 nationallicence 
690 7 |a genotyping  |2 nationallicence 
690 7 |a pharmacogenomics  |2 nationallicence 
690 7 |a technologies  |2 nationallicence 
700 1 |a Jannetto  |D Paul J.  |u Department of Pathology, Medical College of Wisconsin and Milwaukee County Medical Examiner's Office, Milwaukee, WI, USA  |4 aut 
700 1 |a Laleli-Sahin  |D Elvan  |u Department of Pathology, Medical College of Wisconsin and Milwaukee County Medical Examiner's Office, Milwaukee, WI, USA  |4 aut 
700 1 |a Wong  |D Steven H.  |u Department of Pathology, Medical College of Wisconsin and Milwaukee County Medical Examiner's Office, Milwaukee, WI, USA  |4 aut 
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950 |B NATIONALLICENCE  |P 700  |E 1-  |a Laleli-Sahin  |D Elvan  |u Department of Pathology, Medical College of Wisconsin and Milwaukee County Medical Examiner's Office, Milwaukee, WI, USA  |4 aut 
950 |B NATIONALLICENCE  |P 700  |E 1-  |a Wong  |D Steven H.  |u Department of Pathology, Medical College of Wisconsin and Milwaukee County Medical Examiner's Office, Milwaukee, WI, USA  |4 aut 
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