Mutation Detection: A Practical Approach, Vol. 188
Mutation detection is increasingly undertaken in a wide spectrum of research areas: in medicine it is fundamental in isolating disease genes and diagnosis, and is especially important in cancer research; in biology, commercially important genes can be identified by the mutations they contain. But mutation detection is time-consuming and expensive. This volume offers the latest tried and tested protocols for a range of detection methods, from the labs of the leading researchers in the field.\...
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Mutation detection is increasingly undertaken in a wide spectrum of research areas: in medicine it is fundamental in isolating disease genes and diagnosis, and is especially important in cancer research; in biology, commercially important genes can be identified by the mutations they contain. But mutation detection is time-consuming and expensive. This volume offers the latest tried and tested protocols for a range of detection methods, from the labs of the leading researchers in the field. Michael Cummings There is a wide range of possible mutational mechanisms in genes, from single nucleotide substitutions to errors in transcript processing. Using molecular techniques, geneticists have generated a corresponding wide range of methods for the detection and analysis of mutations. This is a volume in the Practical Approaches series, which contains detailed protocols for methods used in mutational analysis. Rather than attempting to be comprehensive, the editors have chosen to focus on a select number of protocols for the molecular analysis of mutations, including scanning methods, which detect previously unknown mutations, and diagnostic methods, which test for known mutations. Because of this, the book is a valuable introduction to the field, and contains methods ranging from the simple to the complex, with varying levels of resolution. It is intended for individuals at all levels in molecular genetics working with experimental organisms, and those in clinical genetics who diagnose and treat human genetic disorders. Each chapter is dedicated to a method of mutational analysis, with detailed protocols. Each protocol is in a boxed format, listing equipment and supplies required, with all experimental steps numbered. Most protocols are followed by comments which cover shortcuts, pitfalls, and analysis of results. The chapters are written by leading authorities in the field, many of whom developed the methods described. The chapters are followed by an appendix, listing suppliers and vendors. This volume maintains the high standards of the series, and is a valuable addition to personal collections and libraries at research institutions.
List of ContributorsAbbreviationsIntroduction1References61Single-strand conformation polymorphism analysis72Single-stranded conformation polymorphism and heteroduplex analysis253Comprehensive mutation detection with denaturing gradient gel electrophoresis354Cleavage using RNase to detect mutations635Cleavage of mismatched bases using chemical reagents816Mutation detection using T4 endonuclease VII997Detection of mutations by hybridization with sequence-specific oligonucleotide probes1138DNA detection and sequence distinction through oligonucleotide ligation1319Detection of sequence variation using primer extension14110Selective amplification of specific alleles16111The protein truncation test (PTT)18912Functional assay of the p53 tumour suppressor gene21113Advances in direct DNA sequencing for mutation scanning223List of Suppliers237Index241
\ Michael CummingsThere is a wide range of possible mutational mechanisms in genes, from single nucleotide substitutions to errors in transcript processing. Using molecular techniques, geneticists have generated a corresponding wide range of methods for the detection and analysis of mutations. This is a volume in the Practical Approaches series, which contains detailed protocols for methods used in mutational analysis. Rather than attempting to be comprehensive, the editors have chosen to focus on a select number of protocols for the molecular analysis of mutations, including scanning methods, which detect previously unknown mutations, and diagnostic methods, which test for known mutations. Because of this, the book is a valuable introduction to the field, and contains methods ranging from the simple to the complex, with varying levels of resolution. It is intended for individuals at all levels in molecular genetics working with experimental organisms, and those in clinical genetics who diagnose and treat human genetic disorders. Each chapter is dedicated to a method of mutational analysis, with detailed protocols. Each protocol is in a boxed format, listing equipment and supplies required, with all experimental steps numbered. Most protocols are followed by comments which cover shortcuts, pitfalls, and analysis of results. The chapters are written by leading authorities in the field, many of whom developed the methods described. The chapters are followed by an appendix, listing suppliers and vendors. This volume maintains the high standards of the series, and is a valuable addition to personal collections and libraries at research institutions.\ \ \ \ \ From The CriticsReviewer: Michael Cummings, PhD (University of Illinois at Chicago)\ Description: There is a wide range of possible mutational mechanisms in genes, from single nucleotide substitutions to errors in transcript processing. Using molecular techniques, geneticists have generated a corresponding wide range of methods for the detection and analysis of mutations. This is a volume in the Practical Approaches series, which contains detailed protocols for methods used in mutational analysis. \ Purpose: Rather than attempting to be comprehensive, the editors have chosen to focus on a select number of protocols for the molecular analysis of mutations, including scanning methods, which detect previously unknown mutations, and diagnostic methods, which test for known mutations. Because of this, the book is a valuable introduction to the field, and contains methods ranging from the simple to the complex, with varying levels of resolution. \ Audience: It is intended for individuals at all levels in molecular genetics working with experimental organisms, and those in clinical genetics who diagnose and treat human genetic disorders. \ Features: Each chapter is dedicated to a method of mutational analysis, with detailed protocols. Each protocol is in a boxed format, listing equipment and supplies required, with all experimental steps numbered. Most protocols are followed by comments which cover shortcuts, pitfalls, and analysis of results. The chapters are written by leading authorities in the field, many of whom developed the methods described. The chapters are followed by an appendix, listing suppliers and vendors. \ Assessment: This volume maintains the high standards of the series, and is a valuable addition to personal collections and libraries at research institutions.\ \ \ 3 Stars from Doody\ \
