中国肌萎缩侧索硬化症患者 TIA1 基因的遗传分析。
Genetic analysis of TIA1 gene in Chinese patients with amyotrophic lateral sclerosis.
机构信息
Department of Neurology and Laboratory of Clinical Genetics, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Department of Neurology and Laboratory of Clinical Genetics, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Neuroscience Center, Chinese Academy of Medical Sciences, Beijing, China.
出版信息
Neurobiol Aging. 2018 Jul;67:201.e9-201.e10. doi: 10.1016/j.neurobiolaging.2018.03.020. Epub 2018 Mar 23.
Mutations in the low-complexity domain (LCD) of T cell-restricted intracellular antigen-1 (TIA1) was recently identified to be associated with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in non-Hispanic white populations. We sequenced the TIA1 exons 11-13 encoding LCD in a series of 588 Chinese ALS/ALS-FTD patients (Familial ALS = 29; Sporadic ALS = 546; ALS-FTD = 13) and 500 neurologically normal control subjects. We found a novel heterozygous missense mutation (c.973A>G, p.N325D) in a sporadic ALS patient, which suggests that TIA1 LCD mutations are not common in Chinese ALS/ALS-FTD.
最近发现 T 细胞受限的细胞内抗原-1（TIA1）的低复杂度结构域（LCD）突变与非西班牙裔白种人群中的肌萎缩侧索硬化症（ALS）和额颞叶痴呆（FTD）有关。我们对一系列 588 名中国 ALS/ALS-FTD 患者（家族性 ALS = 29；散发性 ALS = 546；ALS-FTD = 13）和 500 名神经正常对照进行了 TIA1 外显子 11-13 编码 LCD 的测序。我们在一名散发性 ALS 患者中发现了一种新的杂合错义突变（c.973A>G，p.N325D），这表明 TIA1 LCD 突变在中国 ALS/ALS-FTD 中并不常见。
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