Single Nucleotide Polymorphisms: Methods and Protocols

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Oktober 2002



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.


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, Akari Suzuki, Yoji Kukita, and Kenshi Hayashi

Conformation-Sensitive Gel Electrophoresis
Arupa Ganguly

Detection of Mutations in DNA by Solid-Phase Chemical Cleavage Method: A Simplified Assay
Chinh T. Bui, Jeffrey J. Babon, Andreana Lambrinakos, and Richard G. H. Cotton

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 5'-Nuclease Reaction
Kenneth J. Livak

Genotyping SNPs by Minisequencing Primer Extension Using Oligonucleotide 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, Brigitte Darnhofer-Patel, Dirk van den Boom, and Charles P. Rodi

EAN: 9780896039681
ISBN: 0896039684
Untertitel: 'Methods in Molecular Biology'. Sprache: Englisch.
Erscheinungsdatum: Oktober 2002
Seitenanzahl: 288 Seiten
Format: gebunden
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