Fratta, P; Collins, T; Devoy, A; Fisher, EMC; Nethisinghe, S; Giunti, P; Hanna, MG; ... Sweeney, MG; + view all Fratta, P; Collins, T; Devoy, A; Fisher, EMC; Nethisinghe, S; Giunti, P; Hanna, MG; Pemble, S; Sweeney, MG; - view fewer (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.

Preview

PDF 1-s2.0-S0197458013003205-main.pdf Download (168kB)

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.

Download activity - last month

Export as CSVXMLJSON

Download activity - last 12 months

Export as CSVXMLJSON

Downloads by country - last 12 months

Export as JSONCSVXML

Archive Staff Only

View Item