Single nucleotide polymorphisms : methods and protocols /
Single nucleotide polymorphisms : methods and protocols /
edited by Pui-Yan Kwok.
- Totowa, N.J. : Humana Press, ©2003.
- 1 online resource (xi, 269 pages) : illustrations
- Methods in molecular biology ; 212 .
- Methods in molecular biology (Clifton, N.J.) ; v. 212. .
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.
0896039684 9780896039681 1592593275 9781592593279 1280842113 9781280842115 9786610842117 6610842116
10.1385/1592593275. doi
Single nucleotide polymorphisms--Laboratory manuals.
Chromosome polymorphism--Laboratory manuals.
Human genetics--Variation--Laboratory manuals.
Genetic markers--Laboratory manuals.
DNA Mutational Analysis--methods
Polymorphism, Single Nucleotide--genetics
Genetic Markers--genetics
Genotype
Polymorphisme de nucléotide simple--Manuels de laboratoire.
Polymorphisme chromosomique--Manuels de laboratoire.
Variabilité génétique--Manuels de laboratoire.
Marqueurs génétiques--Manuels de laboratoire.
Génotypes.
MEDICAL--Genetics.
Single nucleotide polymorphisms
Chromosome polymorphism
Genetic markers
Human genetics--Variation
Laboratory Manual
Laboratory manuals
Laboratory manuals.
Manuels de laboratoire.
QH447.6 / .S565 2003
611/.01816
QH506.M45 / v.212
QU 25 / S617 2003
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.
0896039684 9780896039681 1592593275 9781592593279 1280842113 9781280842115 9786610842117 6610842116
10.1385/1592593275. doi
Single nucleotide polymorphisms--Laboratory manuals.
Chromosome polymorphism--Laboratory manuals.
Human genetics--Variation--Laboratory manuals.
Genetic markers--Laboratory manuals.
DNA Mutational Analysis--methods
Polymorphism, Single Nucleotide--genetics
Genetic Markers--genetics
Genotype
Polymorphisme de nucléotide simple--Manuels de laboratoire.
Polymorphisme chromosomique--Manuels de laboratoire.
Variabilité génétique--Manuels de laboratoire.
Marqueurs génétiques--Manuels de laboratoire.
Génotypes.
MEDICAL--Genetics.
Single nucleotide polymorphisms
Chromosome polymorphism
Genetic markers
Human genetics--Variation
Laboratory Manual
Laboratory manuals
Laboratory manuals.
Manuels de laboratoire.
QH447.6 / .S565 2003
611/.01816
QH506.M45 / v.212
QU 25 / S617 2003