Protocols in Human Molecular Genetics

  • Christopher G. Mathew

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

Table of contents

  1. Front Matter
    Pages i-x
  2. Charles R. M. Bangham
    Pages 1-8
  3. Richard A. Gibbs, Phi-Nga Nguyen, C. Thomas Caskey
    Pages 9-20
  4. Peter M. Green, Francesco Giannelli
    Pages 21-28
  5. David R. Bentley, Roland G. Roberts, Jane Montandon
    Pages 51-68
  6. Stephen R. Dlouhy, Patricia Wheeler, James A. Trofatter, Peter J. Stambrook, Jay A. Tischfield
    Pages 95-110
  7. J. Ross Hawkins, Raymond Dalgleish
    Pages 111-121
  8. Bruce Budowle, Robert C. Allen
    Pages 123-132
  9. Colin S. Cooper, Michael R. Stratton
    Pages 133-140
  10. Michael R. Evans, Andrew L. Bertera, Dennis W. Harris
    Pages 147-157
  11. Timothy C. Richardson, Ian Durrant
    Pages 159-168
  12. Johan T. den Dunnen, Gert-Jan B. van Ommen
    Pages 169-182
  13. Peter J. Scambler, Michele Ramsay
    Pages 183-196
  14. Michele Ramsay, Carol Wicking
    Pages 197-221
  15. Julia R. Dorin, David J. Porteous
    Pages 223-232
  16. Kong H. Choo, Ruth M. Brown, Elizabeth Earle
    Pages 233-254
  17. Richard A. Wells, Swee Lay Thein
    Pages 255-272
  18. Karen M. Sullivan
    Pages 273-285
  19. Jeffrey S. Chamberlain, Richard A. Gibbs, Joel E. Ranier, C. Thomas Caskey
    Pages 299-312
  20. Johan T. den Dunnen, Gert-Jan B. van Ommen
    Pages 313-325
  21. Bryan D. Young, Finbarr E. Cotter
    Pages 327-345
  22. Norman J. Maitland, Caroline Lynas
    Pages 347-364
  23. Martin Farrall
    Pages 365-388
  24. Christopher G. Mathew
    Pages 389-401
  25. Stephen P. Bryant
    Pages 403-418
  26. Robert P. Erickson
    Pages 419-435
  27. Trefor Jenkins
    Pages 437-456
  28. Back Matter
    Pages 457-461

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.

Editors and affiliations

  • Christopher G. Mathew
    • 1
  1. 1.United Medical and Dental Schools of Guy’sSt. Thomas’s HospitalsLondonUK

Bibliographic information

  • DOI
  • Copyright Information Humana Press 1992
  • Publisher Name Springer, Totowa, NJ
  • eBook Packages Springer Protocols
  • Print ISBN 978-0-89603-205-7
  • Online ISBN 978-1-59259-496-2
  • Series Print ISSN 1064-3745
  • Series Online ISSN 1940-6029
  • Buy this book on publisher's site