Jump to ContentJump to Main Navigation
Human Genetic DiversityFunctional Consequences for Health and Disease$
Users without a subscription are not able to see the full content.

Julian C. Knight

Print publication date: 2009

Print ISBN-13: 9780199227693

Published to Oxford Scholarship Online: September 2009

DOI: 10.1093/acprof:oso/9780199227693.001.0001

Show Summary Details
Page of

PRINTED FROM OXFORD SCHOLARSHIP ONLINE (oxford.universitypressscholarship.com). (c) Copyright Oxford University Press, 2021. All Rights Reserved. An individual user may print out a PDF of a single chapter of a monograph in OSO for personal use. date: 18 October 2021

Tandem repeats

Tandem repeats

(p.167) Chapter 7 Tandem repeats
Human Genetic Diversity

Julian C. Knight

Oxford University Press

The discovery and characterisation of tandem repeat DNA has been of fundamental importance in the analysis of human genetic variation. The nature and origins of satellite, minisatellite, and microsatellite DNA are reviewed. The diverse applications arising from study of highly polymorphic tandem repeats are described including application to mapping the human genome and disease genes, to forensic practice through techniques such as DNA fingerprinting, and to studies of human origins and evolutionary relationships. The consequences for gene expression are reviewed, including at the variable number tandem repeat upstream of the insulin gene associated with type 1 diabetes. The role of tandem repeats in human disease is discussed, including unstable trinucleotide repeat expansions seen in neurological diseases. Gain of function effects through polyglutamine expansions in Huntington disease and other conditions; loss of function mechanisms involving Fragile X and Friedrich ataxia; and RNA-mediated mechanisms seen in myotonic dystrophy are all reviewed.

Keywords:   tandem repeats, satellite DNA, minisatellites, microsatellites, unstable repeats, variable number tandem repeats, DNA fingerprinting, human evolution, Huntington disease, myotonic dystrophy

Oxford Scholarship Online requires a subscription or purchase to access the full text of books within the service. Public users can however freely search the site and view the abstracts and keywords for each book and chapter.

Please, subscribe or login to access full text content.

If you think you should have access to this title, please contact your librarian.

To troubleshoot, please check our FAQs , and if you can't find the answer there, please contact us .