Pharmacogenomics: Methods and Protocols

ISBN-13: 9781617375712 / Angielski / Miękka / 2010 / 214 str.

Federico Innocenti

Opis

Expert researchers and physician/clinicians describe in detail the newest and most commonly used technologies today in this rapidly advancing field. The authors provide readily reproducible methods for assessing the functional consequences of a certain polymorphism, evaluate the variety of genotyping platforms currently available, and discuss the management of pharmacogenomic information. Highlights include techniques for making a snapshot of the allele-specific variation in human gene expression, genome wide analysis of allele-specific expression using oligo microarrays, in vivo assays with HaploChIP, SNP genotyping in DNA pools, and PharmGKB, the pharmacogenetics and pharmacogenomics knowledge base. The methodologies for genotyping include denaturing high-performance liquid chromarography, pyrosequencing, kinetic-fluorescence detection, mass spectrometry, and TaqMan assay for insertion/deletions.

Spis treści

Part I. History and Overview Pharmacogenomics: Historical Perspective and Current Status Werner Kalow Part II. Functional Analysis of Gene Variation Transfection Assays With Allele-Specific Constructs: Functional Analysis of UDP-Glucuronosyltransferase Variants Hideto Jinno, Nobumitsu Hanioka, Toshiko Tanaka-Kagawa, Yoshiro Saito, Shogo Ozawa, and Jun-ichi Sawada Snapshot of the Allele-Specific Variation in Human Gene Expression Hai Yan Genome-Wide Analysis of Allele-Specific Gene Expression Using Oligo Microarrays Maxwell P. Lee HaploChIP: An In Vivo Assay Julian Charles Knight Part III. Genotyping Techniques Aspects Influencing Genotyping Method Selection Peter Imle Denaturing High-Performance Liquid Chromatography for Mutation Detection and Genotyping Donna Lee Fackenthal, Pei Xian Chen, and Soma Das Pyrosequencing of Clinically Relevant Polymorphisms Sharon Marsh, Cristi R. King, Adam A. Garsa, and Howard L. McLeod Kinetic Fluorescence-Quenching Detection Assay for Allele Frequency Estimation Ming Xiao and Pui-Yan Kwok Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry Matthias Wjst and Dirk van den Boom Fluorescence-Based Fragment Size Analysis Peter Imle Single-Nucleotide Polymorphism Genotyping in DNA Pools Ian Craig, Emma Meaburn, Lee Butcher, Linzy Hill, and Robert Plomin TaqMan Genotyping of Insertion/Deletion Polymorphisms Renato Robledo, William R. Beggs, and Patrick K. Bender Part IV. Management of Pharmacogenomic Information PharmGKB: The Pharmacogenetics and Pharmacogenomics Knowledge Base Caroline F. Thorn, Teri E. Klein, and Russ B. Altman Systems for the Management of Pharmacogenomic Information Alexander Sturn, Michael Maurer, Robert Molidor, and ZlatkoTrajanoski Index

Blurb

Pharmacogenomics holds the promise of drugs tailor-made to an individual's genetic makeup for greater efficacy and safety. In Pharmacogenomics: Methods and Protocols, expert researchers and physician/clinicians describe in detail the newest and most common technologies now used in this rapidly advancing field. The authors provide readily reproducible methods for assessing the functional consequences of a certain polymorphism, evaluate the variety of genotyping platforms currently available, and discuss the management of pharmacogenomic information. Highlights include techniques for making a snapshot of the allele-specific variation in human gene expression, genome wide analysis of allele-specific expression using oligo microarrays, in vivo assays with HaploChIP, SNP genotyping in DNA pools, and PharmGKB, the pharmacogenetics and pharmacogenomics knowledge base. The methodologies for genotyping include denaturing high-performance liquid chromatography, pyrosequencing, kinetic-fluorescence detection, mass spectrometry, and TaqMan assay for insertion/deletions. The protocols follow the successful Methods in Molecular Biology™ series format, each offering step-by-step laboratory instructions, an introduction outlining the principles behind the technique, lists of the necessary equipment and reagents, and tips on troubleshooting and avoiding known pitfalls.
Comprehensive and highly practical, Pharmacogenomics: Methods and Protocols offers pharmacologists, geneticists, molecular biologists, and clinical chemists working in academia, biotechnology, and the pharmaceutical industry a cutting-edge collection of the key techniques used for today's preclinical and clinical studies.