Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system

CORC > 上海神经科学研究所 > 中国科学院上海生命科学研究院神经科学研究所 > 神经所(总)

	Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system
	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
	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.
学科主题	Geriatrics & Gerontology ; Neurosciences
WOS标题词	Geriatrics & Gerontology ; Neurosciences & Neurology
收录类别	SCI
语种	英语
WOS记录号	WOS:000347233200025
公开日期	2015-05-27
内容类型	期刊论文
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.