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Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system
文献类型：期刊论文
| 作者 | Liu, Zhi-Jun; Li, Hong-Fu; Tan, Guo-He; Tao, Qing-Qing; Ni, Wang; Cheng, Xue-Wen; Xiong, Zhi-Qi; Wu, Zhi-Ying |
| 刊名 | NEUROBIOLOGY OF AGING
 |
| 出版日期 | 2014 |
| 卷号 | 35期号:12页码:2881-2881 |
| 关键词 | MOTOR-NEURON DISEASE SUPEROXIDE-DISMUTASE MUTANT DYNACTIN SEQUENCING DATA DCTN1 GENE ALS DEFECTS REPEAT FTD |
| 通讯作者 | Wu, ZY (reprint author), Fudan Univ, Huashan Hosp, Dept Neurol, Shanghai 200040, Peoples R China. |
| 英文摘要 | To date, at least 18 causative genes have been identified in amyotrophic lateral sclerosis (ALS). Because of the clinical and genetic heterogeneity, molecular diagnosis for ALS faces great challenges. HaloPlex target enrichment system is a new targeted sequencing approach, which can detect already known mutations or candidate genes. We performed this approach to screen 18 causative genes of ALS, including SOD1, SETX, FUS, ANG, TARDBP, ALS2, FIG4, VAPB, OPTN, DAO, VCP, UBQLN2, SPG11, SIGMAR1, DCTN1, SQSTM1, PFN1, and CHMP2B in 8 ALS probands. Using this approach, we got an average of 9.5 synonymous or missense mutations per sample. After validation by Sanger sequencing, we identified 3 documented SOD1 mutations (p.F21C, p.G148D, and p.C147R) and 1 novel DCTN1 p.G59R mutation in 4 probands. The novel DCTN1 mutation appeared to segregate with the disease in the pedigree and was absent in 200 control subjects. The high throughput and efficiency of this approach indicated that it could be applied to diagnose ALS and other inherited diseases with multiple causative genes in clinical practice. (C) 2014 Elsevier Inc. All rights reserved. |
| WOS标题词 | Geriatrics & Gerontology ; Neurosciences & Neurology |
| 学科主题 | Geriatrics & Gerontology ; Neurosciences |
| 收录类别 | SCI |
| 语种 | 英语 |
| WOS记录号 | WOS:000347233200025 |
| 公开日期 | 2015-05-27 |
| 源URL | [http://ir.sibs.ac.cn/handle/331001/2675]  |
| 专题 | 上海神经科学研究所_神经所(总) |
| 推荐引用方式 GB/T 7714 | Liu, Zhi-Jun,Li, Hong-Fu,Tan, Guo-He,et al. Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system[J]. NEUROBIOLOGY OF AGING,2014,35(12):2881-2881. |
| APA | Liu, Zhi-Jun.,Li, Hong-Fu.,Tan, Guo-He.,Tao, Qing-Qing.,Ni, Wang.,...&Wu, Zhi-Ying.(2014).Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system.NEUROBIOLOGY OF AGING,35(12),2881-2881. |
| MLA | Liu, Zhi-Jun,et al."Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system".NEUROBIOLOGY OF AGING 35.12(2014):2881-2881. |
入库方式： OAI收割
来源：上海神经科学研究所
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