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IR@PKUHSC  > 北京大学第三临床医学院  > 神经内科  > 期刊论文
学科主题: 临床医学
题名:
Optineurin mutations in patients with sporadic amyotrophic lateral sclerosis in China
作者: 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
发表日期: 2015-11-27
DOI: 10.3109/21678421.2015.1089909
卷: 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
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/54528
Appears in Collections:北京大学第三临床医学院_神经内科_期刊论文

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作者单位: Peking Univ, Hosp 3, Dept Neurol, Beijing 100191, Peoples R China

Recommended Citation:
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.
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