散发性肌萎缩侧索硬化症中结构染色体重排的高发生率
High rate of constitutional chromosomal rearrangements in apparently sporadic ALS.
作者信息
Meyer T, Alber B, Roemer K, Martin T, Kalscheuer V M, Göttert E, Zang K D, Ludolph A C, Ropers H-H, Prudlo J
机构信息
Department of Neurology, Charité University Hospital, Humboldt University, Berlin, Germany.
出版信息
Neurology. 2003 Apr 22;60(8):1348-50. doi: 10.1212/01.wnl.0000055088.52681.f1.
Abstract
Of 85 patients with ALS, the authors identified 3 patients with balanced translocations and 2 patients with pericentric inversions, all affecting distinct chromosomal loci. The high rate of constitutional aberrations (5.9%) suggests that ALS is, in part, associated with recombination-based rearrangements of genomic sequences.
摘要
在85例肌萎缩侧索硬化症（ALS）患者中，作者鉴定出3例平衡易位患者和2例臂间倒位患者，所有这些都影响不同的染色体位点。较高的结构畸变率（5.9%）表明，ALS在一定程度上与基于重组的基因组序列重排有关。
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