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Optineurin mutations in patients with sporadic amyotrophic lateral sclerosis in China
Li, Chengyu; Ji, Ying; Tang, Lu; Zhang, Nan; He, Ji; Ye, Shan; Liu, Xiaolu; Fan, Dongsheng
关键词Amyotrophic Lateral Sclerosis Chinese Population Genetics Mutation Optineurin Phenotype
刊名AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
2015-11-27
DOI10.3109/21678421.2015.1089909
16期:7-8页:485-489
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Clinical Neurology
研究领域[WOS]Neurosciences & Neurology
关键词[WOS]ACTIVATION
英文摘要

The purpose of this study was to assess the frequency of optineurin (OPTN) mutation in amyotrophic lateral sclerosis (ALS) patients from mainland China, as well as to characterize the relationship between OPTN mutation and clinical phenotypes. We examined the coding region of OPTN in 511 unrelated Chinese sporadic ALS (SALS) subjects and 204 healthy controls using a PCR direct sequencing strategy. Nine OPTN variants were identified, of which four were novel missense mutations: c.407C>T (p.A136V), c.1184A>G (p.K395R), c.1352T>C (p.I451T), and c.1546G>C (p.E516Q) (all heterozygous). The remaining five variants were already present in single nucleotide polymorphism databases. Patients with OPTN mutations were characterized by spinal onset, although they showed differences in disease progression. In conclusion, this study provides a genetic epidemiological characterization of OPTN mutations in Chinese patients, and our results are consistent with the proposition that such mutations are common in Asian populations.

语种英语
WOS记录号WOS:000364779400008
引用统计
被引频次:15[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/54528
专题北京大学第三临床医学院_神经内科
北京大学临床肿瘤学院_胃肠肿瘤中心一病区
作者单位Peking Univ, Hosp 3, Dept Neurol, Beijing 100191, Peoples R China
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GB/T 7714
Li, Chengyu,Ji, Ying,Tang, Lu,et al. Optineurin mutations in patients with sporadic amyotrophic lateral sclerosis in China[J]. AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION,2015,16(7-8):485-489.
APA Li, Chengyu.,Ji, Ying.,Tang, Lu.,Zhang, Nan.,He, Ji.,...&Fan, Dongsheng.(2015).Optineurin mutations in patients with sporadic amyotrophic lateral sclerosis in China.AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION,16(7-8),485-489.
MLA Li, Chengyu,et al."Optineurin mutations in patients with sporadic amyotrophic lateral sclerosis in China".AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION 16.7-8(2015):485-489.
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