© 1998

Trinucleotide Diseases and Instability

  • Ben A. Oostra

Part of the Results and Problems in Cell Differentiation book series (RESULTS, volume 21)

Table of contents

  1. Front Matter
    Pages I-IX
  2. R. Frank Kooy, Ben A. Oostra, Patrick J. Willems
    Pages 1-46
  3. Marcy E. MacDonald
    Pages 47-75
  4. J. D. Waring, R. G. Korneluk
    Pages 77-131
  5. Robert D. Wells, Albino Bacolla, Richard P. Bowater
    Pages 133-165
  6. Back Matter
    Pages 167-169

About this book


Till recently, mutations in genes were described in textbooks as deletions or point mutations. These mutations can be inherited from a parent or they are de novo alterations. The discovery in 1991 that human disease can be caused by large-scale ex­ pansion of highly unstable trinucleotide repeats has elucidated a new mutation mechanism, heritable unstable DNA. In the subsequent years more then 10 such disease genes have been identified. All dynamic mutations have been iden­ tified in neurological disorders. There are ten possible trinucleotide repeats at the DNA level, but only 3 have been identified as being involved in human dis­ eases. The rather frequent occurence of triplet repeats in the human genome indicates that other loci subject to unstable expansions may be discovered. The identification of repeat instability and the identification of disease genes containing trinucleotide repeats has helped to answer intriguing questions. The diseases share the unusual characteristic of inheritance with increased disease severity in successive gernerations, a phenomenon called anticipation. Trinu­ cleotide repeat diseases are ideal subjects for direct testing because the muta­ tion is almost exclusively of the same type and there is an extremely low occur­ ance of new mutations in these diseases. The anticipation can now be explained by the correlation of increasing repeat length with increased disease serverity. It can be speculated that other neurological disorders showing anticipation will be caused by unstable repeats as well.


DNA DNA instability diseases transmission genes genetic disorder genetics neurological diseases trinucleotide repeat

Editors and affiliations

  • Ben A. Oostra
    • 1
  1. 1.Department of Clinical GeneticsErasmus University RotterdamRotterdamThe Netherlands

Bibliographic information

  • Book Title Trinucleotide Diseases and Instability
  • Editors Ben A. Oostra
  • Series Title Results and Problems in Cell Differentiation
  • DOI
  • Copyright Information Springer-Verlag Berlin Heidelberg 1998
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Springer Book Archive
  • Hardcover ISBN 978-3-540-63993-0
  • Softcover ISBN 978-3-662-22565-3
  • eBook ISBN 978-3-540-69680-3
  • Series ISSN 0080-1844
  • Series E-ISSN 1861-0412
  • Edition Number 1
  • Number of Pages IX, 169
  • Number of Illustrations 32 b/w illustrations, 0 illustrations in colour
  • Topics Cell Biology
    Molecular Medicine
    Human Genetics
  • Buy this book on publisher's site
Industry Sectors
Health & Hospitals