Single nucleotide polymorphisms : methods and protocols / edited by Pui-Yan Kwok.

Includes bibliographical references and index.

SNPs : why do we care? / Lisa D. Brooks -- Denaturing high-performance liquid chromatography / Andreas Premstaller and Peter J. Oefner -- SNP detection and allele frequency determination by SSCP / Tomoko Tahira [and others] -- Conformation-sensitive gel electrophoresis / Arupa Ganguly -- Detection of mutations in DNA by solid-phase chemical cleavage method : a simplified assay / Chinh T. Bui [and others] -- SNP discovery by direct DNA sequencing / Pui-Yan Kwok and Shenghui Duan -- Computational SNP discovery in DNA sequence data / Gabor T. Marth -- Genotyping SNPs with molecular beacons / Salvatore A.E. Marras, Fred Russell Kramer, and Sanjay Tyagi -- SNP genotyping by the 51-nuclease reaction / Kenneth J. Livak -- Genotyping SNPs by minisequencing primer extension using oligonucliotide microarrays / Katarina Lindroos, Ulrika Liljedahl, and Ann-Christine Syvänen -- Quantitative analysis of SNPs in pooled DNA samples by solid-phase minisequencing / Charlotta Olsson, Ulrika Liljedahl, and Ann-Christine Syvänen -- Homogeneous primer extension assay with fluorescence polarization detection / Tony M. Hsu and Pui-Yan Kwok -- Pyrosequencing for SNP genotyping / Mostafa Ronaghi -- Homogeneous allele-specific PCR in SNP genotyping / Søren Germer and Russell Higuchi -- Oligonucleotide ligation assay / Jonas Jarvius, Mats Nilsson, and Ulf Landegren -- Invader assay for SNP genotyping / Victor Lyamichev and Bruce Neri -- MALDI-TOF mass spectrometry-based SNP genotyping / Niels Storm [and others].

Single nucleotide polymorphisms (SNPs) have become the markers of choice in elucidating the relationship between DNA sequence variation and susceptibility to disease and have clearly become the focus of the next phase of the human genome project. In Single Nucleotide Polymorphisms: Methods and Protocols, Pui-Yan Kwok, MD, PhD, has assembled a collection of robust techniques for the difficult process of 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. Described in step-by-step detail by their inventors, each method provides extensive notes on the technical steps critical for experimental success, time-saving techniques, and tips on avoiding pitfalls. Comprehensive and authoritative, Single Nucleotide Polymorphisms: Methods and Protocols provides in a readily reproducible format all the major SNP discovery and genotyping techniques in use today, whether for using DNA diagnostics to identify a pathogen, for studying the genetic basis of human disease, or for molecular breeding programs in agriculture.

English.