Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON).
作者信息
Juvonen V, Vilkki J, Aula P, Nikoskelainen E, Savontaus M L
出版信息
Am J Hum Genet. 1993 Jul;53(1):289-92.
Abstract
摘要
相似文献
1
2
Leber's hereditary optic neuroretinopathy and the X-chromosomal susceptibility factor: no linkage to DXs7.
Hum Hered. 1992;42(5):316-20. doi: 10.1159/000154089.
3
4
X-chromosomal gene in Leber hereditary optic neuroretinopathy.莱伯遗传性视神经视网膜病变中的X染色体基因。
Am J Hum Genet. 1991 Sep;49(3):692-3.
5
Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis.
Hum Genet. 1989 Jun;82(3):203-7. doi: 10.1007/BF00291154.
6
Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy.反对莱伯遗传性视神经病变中X连锁视力丧失易感基因座的证据。
Am J Hum Genet. 1996 Jul;59(1):103-8.
7
mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathy.芬兰患有Leber遗传性视神经视网膜病变的家族中的线粒体DNA单倍型分析。
Eur J Hum Genet. 1997 Sep-Oct;5(5):271-9.
8
Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism.
Am J Hum Genet. 1989 Aug;45(2):206-11.
9
10
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.一种与Leber遗传性视神经视网膜病变相关的线粒体DNA新突变。
Am J Hum Genet. 1991 Jun;48(6):1147-53.
引用本文的文献
1
2
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder.一个X染色体位点和单倍型的鉴定，该位点和单倍型可调节线粒体DNA疾病的表型。
Am J Hum Genet. 2005 Dec;77(6):1086-91. doi: 10.1086/498176. Epub 2005 Oct 11.
3
Leber's hereditary opric neuropathy: a case report.莱伯遗传性视神经病变：一例报告。
Kaohsiung J Med Sci. 2003 Oct;19(10):516-21. doi: 10.1016/s1607-551x(09)70500-5.
4
A review of primary hereditary optic neuropathies.原发性遗传性视神经病变综述
J Inherit Metab Dis. 2003;26(2-3):209-27. doi: 10.1023/a:1024441302074.
5
Meiotic breakpoint mapping of a proposed X linked visual loss susceptibility locus in Leber's hereditary optic neuropathy.对莱伯遗传性视神经病变中一个拟议的X连锁视力丧失易感基因座进行减数分裂断点定位。
J Med Genet. 1998 Aug;35(8):668-71. doi: 10.1136/jmg.35.8.668.
6
A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome.一种与X连锁视神经萎缩相关的基因与X染色体的Xp11.4 - Xp11.2区域紧密连锁。
Am J Hum Genet. 1997 Oct;61(4):934-9. doi: 10.1086/514884.
7
Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve?莱伯遗传性视神经病变：线粒体DNA突变如何导致视神经变性？
J Bioenerg Biomembr. 1997 Apr;29(2):165-73. doi: 10.1023/a:1022690030664.
8
No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers.
Hum Genet. 1996 Apr;97(4):500-5. doi: 10.1007/BF02267075.
9
Compensatory elevation of complex II activity in Leber's hereditary optic neuropathy.莱伯遗传性视神经病变中复合物II活性的代偿性升高。
Br J Ophthalmol. 1996 Jan;80(1):78-81. doi: 10.1136/bjo.80.1.78.
10
Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy.反对莱伯遗传性视神经病变中X连锁视力丧失易感基因座的证据。
Am J Hum Genet. 1996 Jul;59(1):103-8.
本文引用的文献
1
Strategies for multilocus linkage analysis in humans.人类多位点连锁分析策略。
Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443-6. doi: 10.1073/pnas.81.11.3443.
2
Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees.莱伯遗传性视神经视网膜病变，一种母系遗传疾病。对四个家系的系谱研究。
Arch Ophthalmol. 1987 May;105(5):665-71. doi: 10.1001/archopht.1987.01060050083043.
3
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.与莱伯遗传性视神经病变相关的线粒体DNA突变。
Science. 1988 Dec 9;242(4884):1427-30. doi: 10.1126/science.3201231.
4
Preliminary exclusion of an X-linked gene in Leber optic atrophy by linkage analysis.
Hum Genet. 1989 Jun;82(3):203-7. doi: 10.1007/BF00291154.
5
Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.Leber遗传性视神经病变中的遗传异质性和线粒体DNA异质性
J Med Genet. 1989 Dec;26(12):739-43. doi: 10.1136/jmg.26.12.739.
6
Dinucleotide repeat polymorphism at the MAOA locus.单胺氧化酶A（MAOA）基因座的二核苷酸重复多态性
Nucleic Acids Res. 1991 Feb 11;19(3):689. doi: 10.1093/nar/19.3.689-a.
7
8
Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy.线粒体基因组在伴有Leber遗传性视神经视网膜病变的异质性谱系中的分离
Am J Hum Genet. 1990 Jul;47(1):95-100.
9
Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.Leber遗传性视神经病变：六个家系中相同线粒体ND1突变的鉴定
Am J Hum Genet. 1991 Nov;49(5):939-50.
10
X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation.X染色体连锁和线粒体基因对Leber遗传性视神经病变的控制：来自分离分析的关于依赖X染色体失活的证据。
Proc Natl Acad Sci U S A. 1991 Sep 15;88(18):8198-202. doi: 10.1073/pnas.88.18.8198.
Zotero 插件