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学科主题: 临床医学
题名:
T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber′s hereditary optic neuropathy in a Chinese family
作者: Zhang, Shirong1,2; Wang, Lejin1,2,3,4; Hao, Yansheng3,4; Wang, Pengyun1,2,6; Hao, Ping; Yin, Ke1,2; Wang, Qing K.1,2,5; Liu, Mugen1,2
关键词: Leber&prime ; s hereditary optic neuropathy ; mitochondrial DNA (mtDNA) mutation ; ND6 gene ; polymorphism
刊名: MITOCHONDRION
发表日期: 2008-06-01
DOI: 10.1016/j.mito.2008.02.003
卷: 8, 期:3, 页:205-210
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Cell Biology ; Genetics & Heredity
研究领域[WOS]: Cell Biology ; Genetics & Heredity
关键词[WOS]: DNA MUTATION ; SEQUENCE-ANALYSIS ; MTDNA MUTATIONS ; COMPLEX-I ; PEDIGREES ; FEATURES ; DISEASE ; ENZYME ; LHON
英文摘要:

Leber′s hereditary optic neuropathy (LHON) is a maternally inherited ocular disease which has been associated with three primary mitochondrial DNA mutations: G3640A, G11778A, and T14484C. In this study, we clinically characterized a Chinese family with complete penetrance of LHON. The patients in the family presented with variable clinical features. By direct DNA sequence analysis, we identified both T14484C mutation and a nearby T to C variant at nucleotide 14502 of mitochondria DNA. The T14502C variant altered 158 to V of the protein ND6, which was present in all patients of the family, but not in four unaffected family members and 200 normal controls. The co-existence of both T14484C mutation and T14502C substitution in all patients from the same LHON family suggests that T14502C may play a synergistic role with the primary mutation T14484C. The two variants together may account for the complete penetrance and absence of marked gender bias and visual recovery in the Chinese LHON family although we cannot exclude the possibility of simultaneous involvement of additional mitochondrial variant(s). (c) 2008 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

语种: 英语
WOS记录号: WOS:000257895500001
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/63936
Appears in Collections:北京大学第三临床医学院_眼科_期刊论文

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作者单位: 1.3rd Hosp, Beijing 100083, Peoples R China
2.GuiYang Coll Tradit Chinese Med, Guiyang 550002, Peoples R China
3.Huazhong Univ Sci & Technol, Key Lab Mol Biophys, Minist Educ, Wuhan 430074, Peoples R China
4.Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Ctr Human Genome Res, Wuhan 430074, Peoples R China
5.Peking Univ, Ctr Eye, Dept Pediat Ophthalmol & Strabismus, Beijing 100083, Peoples R China
6.Cleveland Clin, Lerner Res Inst, Dept Mol Cardiol, Ctr Cardiovasc Genet, Cleveland, OH 44195 USA

Recommended Citation:
Zhang, Shirong,Wang, Lejin,Hao, Yansheng,et al. T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber′s hereditary optic neuropathy in a Chinese family[J]. MITOCHONDRION,2008,8(3):205-210.
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