| 线粒体DNA继发突变对Leber遗传性视神经病变的影响 |
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| 引用本文： | 袁美霞,瞿佳,周翔天,管敏鑫. 线粒体DNA继发突变对Leber遗传性视神经病变的影响[J]. 国际遗传学杂志, 2006, 32(1): 208-212. DOI: 10.3760/cma.j.issn.1673-4386.2009.03.011 |
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| 作者姓名： | 袁美霞 瞿佳 周翔天 管敏鑫 |
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| 作者单位： | 325003,温州医学院浙江省医学遗传学重点实验室;325003,温州医学院眼视光医院;温州医学院眼视光医院,325003;325003,温州医学院浙江省医学遗传学重点实验室;325003,温州医学院眼视光医院;45229,美国辛辛那提儿童医院医学中心遗传学研究室; |
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| 基金项目： | 浙江省自然科学基金浙江省重点研究和发展基金国家杰出青年科学基金海外、港澳青年学者合作研究基金 |
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| 摘 要： | Leber遗传性视神经病变是一种多发于青壮年的母系遗传性疾病,可导致双眼严重的急性无痛性、且一般是永久性的双侧中心视野缺失.3个线粒体DNA(mitochondrial DNA,mtDNA)原发突变ND4 G11778A、ND1 G3460A和N06 T14484C是其致病的主要因素,但家族问及家族内不同成员之间的表型差异表明存在其他的修饰因子,包括核及线粒体遗传修饰因子、环境因素.本综述主要阐述mtDNA继发突变对LHON表型表达的影响.
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| 关 键 词： | Leber遗传性视神经病变 线粒体DNA 原发突变 继发突变 |
The Influence of Secondary Mutations of Mitochondrial DNA on Leber's Hereditary Optic Neuropathy |
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| YUAN Mei-xia,QU Jia,ZHOU Xiang-tian,GUAN Min-xin. The Influence of Secondary Mutations of Mitochondrial DNA on Leber's Hereditary Optic Neuropathy[J]. International JOurnal of Genetics, 2006, 32(1): 208-212. DOI: 10.3760/cma.j.issn.1673-4386.2009.03.011 |
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| Authors: | YUAN Mei-xia QU Jia ZHOU Xiang-tian GUAN Min-xin |
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| Abstract: | Leber's hereditary optic neuropathy (LHON) is a maternally inherited disorder leading torapid, painless, bilateral and usually permanent central vision loss in young adults. Three primary mitochondri-al DNA (mtDNA) mutations account for the majority of LHON pedigrees worldwide. The wide range of pene-trance and expressivity between matrilineal relatives within families or among families indicates that modifierfactors including nuclear and mitochondrial genetic modifiers and environmental factors modlulate the phenotypicmanifestation of these primary mtDNA mutations. This review summarizes the role of LHON-associated seconda-ry mutations in the penetrance and phenotypic expression of LHON. |
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| Keywords: | Leber hereditary optic neuropathyMitochondrial DNAPrimary mutationSecondary mutation |
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