Single Nucleotide Polymorphisms: Methods and Protocols
edited by Pui-Yan Kwok
Humana Press | ISBN 0-89603-968-4 | 2002 | PDF | 269 pages | 3.4 MB
Pui-Yan Kwok, MD, PhD, has assembled a comprehensive collection of readily reproducible techniques for the difficult process of single nucleotide polymorphisms (SNP) discovery and genotyping. These cutting-edge protocols for mutation/SNP detection utilize denaturing high-performance liquid chromatography (dHPLC), single-strand conformation polymorphism (SSCP), conformation-sensitive gel electrophoresis (CSGE), chemical cleavage, and direct sequencing. Equally powerful and up-to-date methods are given for genotyping SNPs, including molecular beacons, the Taqman assay, single-base extension approaches, pyrosequencing, ligation, the Invader assay, and primer extension with mass spectrometry detection.