Article Text

PDF

FMR1 triplet arrays: paying the price for perfection
  1. Mark C Hirst
  1. Molecular Genetics Group, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DB, UK

    Abstract

    Our understanding of FMRI trinucleotide instability has increased dramatically with knowledge of its detailed structures. While most arrays seem to be protected by interspersions, for a few the price of perfection is instability. Although there remain many unanswered questions, diagnosis in the “grey zone” can be greatly improved by studying array content. For the future, as we strive to delineate normal from premutation, we should increasingly be able to estimate rates of instability for future generations and predict the risk of conversion to the full mutation.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.