Geraerts Fiona C A, Snell Russell G, Faull Richard L M, Williams Liam, Jacobsen Jessie C, Reid Suzanne J
School of Biological Sciences, Centre for Brain Research, Faculty of Science, The University of Auckland, Auckland, New Zealand.
Department of Anatomy and Medical Imaging, Centre for Brain Research, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand.
J Huntingtons Dis. 2016 Oct 1;5(3):297-301. doi: 10.3233/JHD-160203.
Huntington's disease is caused by expansion of the CAG repeat in Huntingtin. This repeat has shown tissue-specific instability in mouse models and in a small number of post-mortem human samples. We used small-pool PCR to generate a modified instability index to quantify CAG instability within two brain regions from six human samples where cell loss has been associated with motor and mood symptoms: the motor cortex and cingulate gyrus. The expanded allele demonstrated instability in both regions, with minimal instability in the unexpanded allele. Region-specific differences were not observed, suggesting symptomatology may not be determined by repeat length instability.
亨廷顿舞蹈症由亨廷顿蛋白中CAG重复序列的扩增引起。在小鼠模型和少量人类尸检样本中，这种重复序列表现出组织特异性的不稳定性。我们使用小池PCR技术生成了一个改良的不稳定性指数，以量化来自六个因细胞丢失与运动和情绪症状相关的人类样本的两个脑区（运动皮层和扣带回）内的CAG不稳定性。扩增的等位基因在两个区域均表现出不稳定性，而未扩增的等位基因则表现出最小的不稳定性。未观察到区域特异性差异，这表明症状学可能不由重复序列长度的不稳定性决定。
