北京大学医学部机构知识库
Advanced  
IR@PKUHSC  > 基础医学院  > 医学遗传学系  > 期刊论文
学科主题: 基础医学
题名:
Twelve Novel Atm Mutations Identified in Chinese Ataxia Telangiectasia Patients
作者: Huang, Yu1; Yang, Lu2; Wang, Jianchun2; Yang, Fan2; Xiao, Ying2; Xia, Rongjun2; Yuan, Xianhou2; Yan, Mingshan2,3
关键词: Ataxia telangiectasia ; Mutation analysis ; Sequencing ; MLPA
刊名: NEUROMOLECULAR MEDICINE
发表日期: 2013-09-01
DOI: 10.1007/s12017-013-8240-3
卷: 15, 期:3, 页:536-540
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Neurosciences
研究领域[WOS]: Neurosciences & Neurology
关键词[WOS]: GENE-MUTATIONS ; PRODUCT ; LOCALIZATION ; FREQUENCY ; KINASE ; DAMAGE ; REDOX
英文摘要:

Ataxia telangiectasia (A-T) is an autosomal recessive disease characterized mainly by progressive cerebellar ataxia, oculocutaneous telangiectasia, and immunodeficiency. This disease is caused by mutations of the ataxia telangiectasia mutated (Atm) gene. More than 500 Atm mutations that are responsible for A-T have been identified so far. However, there have been very few A-T cases reported in China, and only two Chinese A-T patients have undergone Atm gene analysis. In order to systemically investigate A-T in China and map their Atm mutation spectrum, we recruited eight Chinese A-T patients from six unrelated families nationwide. Using direct sequencing of genomic DNA and the multiplex ligation-dependent probe amplification, we identified twelve pathogenic Atm mutations, including one missense, four nonsense, five frameshift, one splicing, and one large genomic deletion. All the Atm mutations we identified were novel, and no homozygous mutation and founder-effect mutation were found. These results suggest that Atm mutations in Chinese populations are diverse and distinct largely from those in other ethnic areas.

语种: 英语
项目资助者: Zijing medical group ; Longevity Foundation at Austin, Texas
WOS记录号: WOS:000322722300009
Citation statistics:
内容类型: 期刊论文
版本: 出版稿
URI标识: http://ir.bjmu.edu.cn/handle/400002259/57748
Appears in Collections:基础医学院_医学遗传学系_期刊论文

Files in This Item:
File Name/ File Size Content Type Version Access License
Twelve Novel Atm Mutations Identified in Chinese Ataxia Telangiectasia Patients.pdf(187KB)期刊论文出版稿限制开放 联系获取全文

作者单位: 1.Bach Pharma Inc, N Andover, MA 01845 USA
2.Peking Univ, Hlth Sci Ctr, Dept Med Genet, Beijing 100871, Peoples R China
3.Wuhan Univ Sci & Technol, Sch Med, Zijing Biomed Inst, Wuhan 430062, Peoples R China

Recommended Citation:
Huang, Yu,Yang, Lu,Wang, Jianchun,et al. Twelve Novel Atm Mutations Identified in Chinese Ataxia Telangiectasia Patients[J]. NEUROMOLECULAR MEDICINE,2013,15(3):536-540.
Service
Recommend this item
Sava as my favorate item
Show this item's statistics
Export Endnote File
Google Scholar
Similar articles in Google Scholar
[Huang, Yu]'s Articles
[Yang, Lu]'s Articles
[Wang, Jianchun]'s Articles
CSDL cross search
Similar articles in CSDL Cross Search
[Huang, Yu]‘s Articles
[Yang, Lu]‘s Articles
[Wang, Jianchun]‘s Articles
Related Copyright Policies
Null
Social Bookmarking
Add to CiteULike Add to Connotea Add to Del.icio.us Add to Digg Add to Reddit
所有评论 (0)
暂无评论
 
评注功能仅针对注册用户开放,请您登录
您对该条目有什么异议,请填写以下表单,管理员会尽快联系您。
内 容:
Email:  *
单位:
验证码:   刷新
您在IR的使用过程中有什么好的想法或者建议可以反馈给我们。
标 题:
 *
内 容:
Email:  *
验证码:   刷新

Items in IR are protected by copyright, with all rights reserved, unless otherwise indicated.

 

 

Valid XHTML 1.0!
Copyright © 2007-2017  北京大学医学部 - Feedback
Powered by CSpace