Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Neurobiol Aging. 2013 Jun;34(6):1710.e5-6. doi: 10.1016/j.neurobiolaging.2012.11.018. Epub 2012 Dec 20.
An intronic GGGGCC hexanucleotide repeat expansion in the C9orf72 gene was recently identified as a major cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia in white populations. To determine if the C9orf72 repeat expansion was present in ALS patients in Chinese populations, we studied the size of the hexanucleotide repeat expansion in a cohort of familial and sporadic ALS patients of Chinese origin. No expanded hexanucleotide repeats were identified. This indicates that C9orf72 mutations are not a common cause of familial or sporadic ALS in Chinese mainland.
最近，在 C9orf72 基因中发现的一个内含子 GGGGCC 六核苷酸重复扩展被认为是白种人群中肌萎缩侧索硬化症（ALS）和额颞叶痴呆的主要病因。为了确定 C9orf72 重复扩展是否存在于中国人群的 ALS 患者中，我们研究了一组原籍中国的家族性和散发性 ALS 患者中六核苷酸重复扩展的大小。未发现扩展的六核苷酸重复。这表明 C9orf72 突变不是中国大陆家族性或散发性 ALS 的常见原因。
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