Show Summary Details
Page of

Isolated Populations and Common Variants 

Isolated Populations and Common Variants
Isolated Populations and Common Variants

Karola Rehnström

and Leena Peltonen

Page of

PRINTED FROM OXFORD MEDICINE ONLINE ( © Oxford University Press, 2020. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

date: 07 July 2020

Isolated populations are defined as populations originating from a small number of founders, experiencing only limited immigration, and where expansion has primarily taken place through population growth. The lack of immigration often results from either geographical or cultural isolation. Isolated populations have been used successfully in genetic mapping of Mendelian disorders because of the reduced genetic heterogeneity. Emerging results from genome-wide association studies suggest that for some phenotypes, isolated populations also offer advantages in mapping of common genetic risk factors. As each isolate is uniquely different because of different demographic histories, careful characterization of the population substructure is crucial for optimal study design.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.