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T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber′s hereditary optic neuropathy in a Chinese family
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
2008-06-01
DOI10.1016/j.mito.2008.02.003
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
引用统计
被引频次:16[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/63936
专题北京大学第三临床医学院_眼科
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
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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.
APA Zhang, Shirong.,Wang, Lejin.,Hao, Yansheng.,Wang, Pengyun.,Hao, Ping.,...&Liu, Mugen.(2008).T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber′s hereditary optic neuropathy in a Chinese family.MITOCHONDRION,8(3),205-210.
MLA Zhang, Shirong,et al."T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber′s hereditary optic neuropathy in a Chinese family".MITOCHONDRION 8.3(2008):205-210.
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