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Leber’s遗传性视神经病变3460A点突变及临床预后 被引量：1

Leber's hereditary optic neuropathy(LHON)pedigrees with G3460A mitochondrial mutation and its clinical prognosis
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摘要 目的报道一个携带线粒体G3460A点突变的Leber's遗传性视神经病变(Leber'she-reditaryopticneuropathy,LHON)家系及其临床预后。方法对一LHON家系10母系成员进行临床检查,应用聚合酶链反应扩增目的基因、琼脂糖凝胶电泳、切胶纯化并双向测序,对三个原发突变位点G3460A、G11778A、T14484C进行检测。结果所有母系成员均携带G3460A点突变,家系内对照未携带该突变;所有的家系成员未携带其他两个原发突变。结论携带G3460A点突变的患者有较好的视力预后。 Objective To report a Leber＇s hereditary optic neuropathy（LHON ） pedigree with G3460A mitochondrial mutation and clinical prognosis in this family. Methods Individuals＇ DNA fragment spanning the position G3460A. G11778A. T14484C were analyzed by -amplified PCR（polymerase chain reaction）, agarose gel electrophoresis, agarose gel purification and DNA sequencing. The objective pedigree includes 5 affected person, 5 non-affected person and 6 family members in law. Results Mitochondrial DNA mutation of G3460A was checked in all maternal members in this pedigree, whereas not in all family members in law. Mutation of G11778A and T14484C were not checked in all family members. Conclusion The LHON patient with mutation of G3460A have a better visual activity prognosis.
作者 杜利平 金学民 孙大光 马旭
机构地区 郑州大学第一附属医院眼科 国家人口计生委科学技术研究所
出处 《中国实用眼科杂志》 CSCD 北大核心 2006年第5期516-518,共3页 Chinese Journal of Practical Ophthalmology
关键词 Leber’s遗传性视神经病变 线粒体 聚合酶链反应 leber＇s hereditaryoptic neuropathy mtDNA, mutation polymerase chain reaction
分类号 R774.6 [医药卫生—眼科] R541.4 [医药卫生—心血管疾病]
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参考文献13

  • 1Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science,1988,242:1427-1430
  • 2Mackey DA, Oostra R J, Rosenberg T, et al. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet, 1996,59(2):481-5
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二级参考文献4

共引文献43

同被引文献13

  • 1郭向明,贾小云,肖学珊,郭莉,黎仕强,张清炯.中国人Leber遗传性视神经病变线粒体DNA突变频谱[J].中华眼底病杂志,2003,19(5):288-291. 被引量：44
  • 2Erickson RP. Leber's optic atrophy, a possible example of maternal inheritance[J]. Am J Hum Genet,1972,24:348-349.
  • 3Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy[ J]. Science, 1988, 242 : 1427-1430.
  • 4Aehilli A, Iommarini L, Olivieri A, et al. Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy [ J/10L ]. PLoS One, 2012,7 : e42242. [ 2012 - 01 - 20 ]. http://www, nebi. nlm. nih. gov/pme/articles/PMC3411744/.
  • 5Yu H, Ozdemir SS, Koilkonda RD, et al. Mutant NADH dehydrogenase subunit 4 gene delivery to mitochondria by targeting sequence-modified adeno-associated virus induces visual loss and optic atrophy in miee[J ]. Mol Vis,2012,18 : 1668-1683.
  • 6Newman NJ,Lott MT,Wallace DC. The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation[ J]. Am J Ophthalmol, 1991,111 : 750-762.
  • 7Newman NJ. Leber's hereditary optic neuropathy. New genetic considerations [ J ]. Arch Neurol, 1993,50 : 540-548.
  • 8Nikoskelainen E, Hoyt WF, Nummelin K. Ophthalmoscopic findings in Leber's hereditary optic neuropathy. II. The fundus findings in the affected family members [ J ]. Arch Ophthalmol, 1983,101 : 1059-1068.
  • 9Mackey D, Howell N. A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology [ J ]. Am J Hum Genet, 1992,51 : 1218 - 1228.
  • 10Stone EM, Newman NJ, Miller NR, et al. Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation[J]. J Clin Neuroophthalmol, 1992,12 : 10-14.

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中国实用眼科杂志
2006年 第5期

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