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

Authors
Journal
Neurobiology of Aging
0197-4580
Publisher
Elsevier
Volume
35
Issue
2
Identifiers
DOI: 10.1016/j.neurobiolaging.2013.07.015
Keywords
  • Kennedy'S Disease
  • Spinal Bulbar Muscular Atrophy
  • Cag
  • Trinucleotide
  • Interruptions
Disciplines
  • Medicine

Abstract

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.

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