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Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions

Fratta, P; Collins, T; Devoy, A; Fisher, EMC; Nethisinghe, S; Giunti, P; Hanna, MG; ... Sweeney, MG; + view all (2014) Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions. Neurobiology of Aging , 35 (2) 443.e1-443.e3. 10.1016/j.neurobiolaging.2013.07.015. Green open access

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Abstract

Trinucleotide repeat disorders are a heterogeneous group of diseases caused by the expansion, beyond a pathogenic threshold, of unstable DNA tracts in different genes. Sequence interruptions in the repeats have been described in the majority of these disorders and may influence disease phenotype and heritability. Spinal bulbar muscular atrophy (SBMA) is a motor neuron disease caused by a CAG trinucleotide expansion in the androgen receptor ( AR) gene. Diagnostic testing and previous research have relied on fragment analysis polymerase chain reaction to determine the AR CAG repeat size, and have therefore not been able to assess the presence of interruptions. We here report a sequencing study of the AR CAG repeat in a cohort of SBMA patients and control subjects in the United Kingdom. We found no repeat interruptions to be present, and we describe differences between sequencing and traditional sizing methods. © 2014 The Authors.

Type: Article
Title: Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.neurobiolaging.2013.07.015
Publisher version: http://dx.doi.org/10.1016/j.neurobiolaging.2013.07...
Additional information: �© 2014 The Authors. Published by Elsevier Inc. All rights reserved. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike License, which permits noncommercial use, distribution, and reproduction in any medium, provided the original author and source are credited.
Keywords: Kennedy's disease; Spinal bulbar muscular atrophy; CAG; Trinucleotide; Interruptions;
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: http://discovery.ucl.ac.uk/id/eprint/1418845
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