Printer Friendly
Dictionary, Encyclopedia and Thesaurus - The Free Dictionary
3,904,044,735 visitors served.
forum Join the Word of the Day Mailing List For webmasters
?
Dictionary/
thesaurus
Medical
dictionary
Legal
dictionary
Financial
dictionary
Acronyms
 
Idioms
Encyclopedia
Wikipedia
encyclopedia
?

premutation

   Also found in: Medical 0.01 sec.
premutation [‚prē·myü′tā·shən]
(genetics)
A heritable change, such as a trinucleotide repeat expansion, that has no phenotypic effect but greatly increases the likelihood of a further change at the altered site, resulting in a characteristic phenotype.
Want to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit the webmaster's page for free fun content.
?Page tools
Printer friendly
Cite / link 		Feedback
Mentioned in?  References in periodicals archive?   Encyclopedia browser?   Full browser?
No references found
 
In FXTAS, unlike fragile X syndrome, FMR1 gene produces a toxic messenger RNA because of the abnormally high numbers of the repeating DNA sequences (55-200 CGG units) called premutation.
NAF research grant summaries by Generations
However, when premutations are inherited by their daughters, instability in the series of CGGs can result in the occurrence of a full mutation during egg production.
Research 101 by Silverman, Wayne / The Exceptional Parent
This repeat expands into a premutation leading to FXTAS in older patients; further expansion into the full-mutation leads to fragile X syndrome in children.
Late onset ataxia due to a CGG repeat expansion in the FMR1 gene by Mayeur, Greg / Generations
 
 
 
Encyclopedia
?

Terms of Use | Privacy policy | Feedback | Advertise with Us | Copyright © 2012 Farlex, Inc.
Disclaimer
All content on this website, including dictionary, thesaurus, literature, geography, and other reference data is for informational purposes only. This information should not be considered complete, up to date, and is not intended to be used in place of a visit, consultation, or advice of a legal, medical, or any other professional.