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Protocols in Human Molecular Genetics

  • Book
  • © 1992

Overview

Editors:
  1. Christopher G. Mathew

    1. United Medical and Dental Schools of Guy’s, St. Thomas’s Hospitals, London, UK

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

Part of the book series: Methods in Molecular Biology (MIMB, volume 9)

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Table of contents (33 protocols)

  1. Front Matter

    Pages i-x
    Download chapter PDF

  2. The Polymerase Chain Reaction

    • Charles R. M. Bangham
    Pages 1-8

  3. Direct DNA Sequencing of Complementary DNA Amplified by the Polymerase Chain Reaction

    • Richard A. Gibbs, Phi-Nga Nguyen, C. Thomas Caskey
    Pages 9-20

  4. Direct Sequencing of PCR-Amplified DNA

    • Peter M. Green, Francesco Giannelli
    Pages 21-28

  5. Rapid DNA Sequence Analysis Using Fluorescent Labels

    • Richard K. Wilson
    Pages 29-37

  6. Detection of Mutations in DNA and RNA by Chemical Cleavage

    • R. G. H. Cotton
    Pages 39-49

  7. Rapid Methods for Detection of Polymorphic Markers in Genomic DNA

    • David R. Bentley, Roland G. Roberts, Jane Montandon
    Pages 51-68

  8. The Analysis of Point Mutations Using Synthetic Oligonucleotide Probes

    • Christine J. Farr
    Pages 69-76

  9. Detection of Mutations by the Amplification Refractory Mutation System (ARMS)

    • John M. Old
    Pages 77-84

  10. Automated Gene Detection Using the Oligonucleotide Ligation Assay

    • Ulf Landegren
    Pages 85-93

  11. Detection of Point Mutations by Denaturing-Gradient Gel Electrophoresis

    • Stephen R. Dlouhy, Patricia Wheeler, James A. Trofatter, Peter J. Stambrook, Jay A. Tischfield
    Pages 95-110

  12. The Detection and Mapping of Point Mutations by RNase A Cleavage

    • J. Ross Hawkins, Raymond Dalgleish
    Pages 111-121

  13. Discontinuous Polyacrylamide Gel Electrophoresis of DNA Fragments

    • Bruce Budowle, Robert C. Allen
    Pages 123-132

  14. Extraction and Enzymatic Amplification of DNA from Paraffin-Embedded Specimens

    • Colin S. Cooper, Michael R. Stratton
    Pages 133-140

  15. The Use of the Polymerase Chain Reaction in the Mapping of Human Genes Using Somatic Cell Hybrids

    • Cathy Abbott, Sue Povey
    Pages 141-146

  16. The Southern Blot

    • Michael R. Evans, Andrew L. Bertera, Dennis W. Harris
    Pages 147-157

  17. The Detection of Specific DNA Sequences by Enhanced Chemiluminescence

    • Timothy C. Richardson, Ian Durrant
    Pages 159-168

  18. Pulsed-Field Gel Electrophoresis

    • Johan T. den Dunnen, Gert-Jan B. van Ommen
    Pages 169-182

  19. Cloning from Gels Following Pulse-Field Gel Electrophoresis

    • Peter J. Scambler, Michele Ramsay
    Pages 183-196

  20. Yeast Artificial-Chromosome (YAC) Cloning Systems

    • Michele Ramsay, Carol Wicking
    Pages 197-221
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About this book

Extraordinary advances have been made in the field of human molecular genetics during the past five years. The ability to amplify a specific region ofDNA a millionfold in a few hours using the polymerase chain reaction has led to the rapid identification of mutations in human disease and of DNA sequence polymorphisms on every human chro- some. DNA fragments of up to 1 megabase in length can now be resolved by pulsed-field gel electrophoresis to create long-range physical maps of important regions of the genome, and can be cloned in the form of yeast artificial chromosomes. The discovery of highly variable "minisatellite" DNA sequences has led to the development of DNA fingerprinting. The application of these techniques to the study of the human genome has culminated in major advances such as the cloning of the cystic fibrosis gene, the construction of genetic linkage maps of each human chro- some, the mapping of many genes responsible for human inherited d- orders, genetic fingerprinting of forensic specimens, and the detection of mutations involved in the development of human tumors. Although many of the new techniques in molecular genetics can be learned relatively easily, it is often difficult for a researcher to obtain all of the relevant information necessary for getting up a technique and applying it successfully. The information available in the research lite- ture often lacks the depth of description that the new user requires.

Reviews

Cover[s] virtually all aspects of modern human molecular genetics....This is an excellent text and should be available to all laboratories using molecular biology as it offers precise instruction for the novice and a wide range of new techniques for the experienced researcher. Its popularity can be gauged by the intense interest shown in the book by both research scientists and students in our laboratory. -SGM Quarterly

Editors and Affiliations

  • United Medical and Dental Schools of Guy’s, St. Thomas’s Hospitals, London, UK

    Christopher G. Mathew

Bibliographic Information

  • Book Title: Protocols in Human Molecular Genetics

  • Editors: Christopher G. Mathew

  • Series Title: Methods in Molecular Biology

  • DOI: https://doi.org/10.1385/0896032051

  • Publisher: Humana Totowa, NJ

  • eBook Packages: Springer Protocols

  • Copyright Information: Humana Press 1992

  • eBook ISBN: 978-1-59259-496-2Published: 03 February 2008

  • Series ISSN: 1064-3745

  • Series E-ISSN: 1940-6029

  • Edition Number: 1

  • Number of Pages: 472

  • Topics: Human Genetics

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