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Twelve Novel Atm Mutations Identified in Chinese Ataxia Telangiectasia Patients
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
2013-09-01
DOI10.1007/s12017-013-8240-3
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
WOS记录号WOS:000322722300009
资助机构Zijing medical group ; Longevity Foundation at Austin, Texas
引用统计
被引频次:7[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
版本出版稿
条目标识符http://ir.bjmu.edu.cn/handle/400002259/57748
专题北京大学基础医学院_医学遗传学系
北京大学第三临床医学院_胸外科
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
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GB/T 7714
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.
APA Huang, Yu.,Yang, Lu.,Wang, Jianchun.,Yang, Fan.,Xiao, Ying.,...&Yan, Mingshan.(2013).Twelve Novel Atm Mutations Identified in Chinese Ataxia Telangiectasia Patients.NEUROMOLECULAR MEDICINE,15(3),536-540.
MLA Huang, Yu,et al."Twelve Novel Atm Mutations Identified in Chinese Ataxia Telangiectasia Patients".NEUROMOLECULAR MEDICINE 15.3(2013):536-540.
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