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莱伯遗传性视神经病变的手指采血检测

Finger prick blood testing in Leber hereditary optic neuropathy.

作者信息

Mackey D, Nasioulas S, Forrest S

机构信息

Department of Ophthalmology, Murdoch Institute, Royal Children's Hospital, Melbourne, Australia.

出版信息

Br J Ophthalmol. 1993 May;77(5):311-2. doi: 10.1136/bjo.77.5.311.

DOI:10.1136/bjo.77.5.311
PMID:8318469
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC504511/
Abstract

Individuals from 33 unrelated Australian families with optic atrophy were screened for 10 different single base alterations in mitochondrial DNA (mtDNA) associated with Leber hereditary optic neuropathy (LHON) using direct polymerase chain reaction amplification of blood spots collected on Guthrie cards. This method using blood spots allows easily accessible screening for LHON mtDNA mutations with minimal biohazard risk and reduced expense in the storage and transport of specimens.

摘要

对来自33个无亲缘关系的患有视神经萎缩的澳大利亚家庭的个体，采用针对Guthrie卡片上采集的血斑进行直接聚合酶链反应扩增的方法，筛查与Leber遗传性视神经病变（LHON）相关的线粒体DNA（mtDNA）中的10种不同单碱基改变。这种使用血斑的方法能够方便地筛查LHON mtDNA突变，生物危害风险极小，且标本储存和运输成本降低。

相似文献

1
Finger prick blood testing in Leber hereditary optic neuropathy.莱伯遗传性视神经病变的手指采血检测
Br J Ophthalmol. 1993 May;77(5):311-2. doi: 10.1136/bjo.77.5.311.
2
Intrafamilial variation in Leber hereditary optic neuropathy revealed by direct mutation analysis.
Clin Genet. 1993 Feb;43(2):69-72. doi: 10.1111/j.1399-0004.1993.tb04429.x.
3
Sporadic Leber hereditary optic neuropathy in Australia and New Zealand.
Aust N Z J Ophthalmol. 1996 Feb;24(1):7-14. doi: 10.1111/j.1442-9071.1996.tb01545.x.
4
The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy.患有Leber遗传性视神经视网膜病变的家族中线粒体DNA突变谱。
Hum Genet. 1993 Oct;92(4):379-84. doi: 10.1007/BF01247339.
5
Mitochondrial DNA analysis of Leber's hereditary optic neuropathy.Leber遗传性视神经病变的线粒体DNA分析
Jpn J Ophthalmol. 1991;35(1):102-6.
6
Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON).Leber遗传性视神经病变（LHON）分子遗传学诊断中的陷阱。
Am J Hum Genet. 1993 Oct;53(4):916-20.
7
Development of reverse dot-blot system for screening of mitochondrial DNA mutations associated with Leber hereditary optic atrophy.用于筛查与Leber遗传性视神经萎缩相关的线粒体DNA突变的反向斑点杂交系统的开发。
Clin Chem. 1997 Jan;43(1):18-23.
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Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy.I型Leber遗传性视神经病变中的线粒体DNA突变与异质性
Am J Med Genet. 1992 Jan 15;42(2):173-9. doi: 10.1002/ajmg.1320420208.
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[Molecular genetic analysis for Leber's hereditary optic neuropathy (LHON)].[Leber遗传性视神经病变（LHON）的分子遗传学分析]
Nihon Rinsho. 1993 Sep;51(9):2396-402.
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High frequency of mitochondrial ND4 gene mutation in Japanese pedigrees with Leber hereditary optic neuropathy.日本Leber遗传性视神经病变家系中线粒体ND4基因突变的高频率。
Jpn J Ophthalmol. 1992;36(1):56-61.

引用本文的文献

1
Screening of mtDNA mutations in Italian LHON pedigrees.意大利LHON家系中线粒体DNA突变的筛查。
J Inherit Metab Dis. 1996;19(2):127-9. doi: 10.1007/BF01799410.

本文引用的文献

1
Ophthalmoscopic findings in Leber's hereditary optic neuropathy. II. The fundus findings in the affected family members.莱伯遗传性视神经病变的检眼镜检查结果。II. 患病家庭成员的眼底表现
Arch Ophthalmol. 1983 Jul;101(7):1059-68. doi: 10.1001/archopht.1983.01040020061011.
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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.
3
Improved molecular-genetic diagnosis of Leber's hereditary optic neuropathy.
N Engl J Med. 1990 Nov 22;323(21):1488-9.
4
An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene.一例不涉及线粒体ND4基因突变的Leber遗传性视神经病变。
Am J Hum Genet. 1990 Oct;47(4):629-34.
5
Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.Leber遗传性视神经病变：线粒体ND1基因受累及基因内抑制突变的证据。
Am J Hum Genet. 1991 May;48(5):935-42.
6
Gene amplification directly from Guthrie blood spots.直接从干血斑中进行基因扩增。
Lancet. 1990 Dec 8;336(8728):1451-2. doi: 10.1016/0140-6736(90)93161-h.
7
Mae III positively detects the mitochondrial mutation associated with type I Leber's hereditary optic neuropathy.Mae III能阳性检测出与I型Leber遗传性视神经病变相关的线粒体突变。
Arch Ophthalmol. 1990 Oct;108(10):1417-20. doi: 10.1001/archopht.1990.01070120065030.
8
Polymerase chain reaction amplification from dried blood spots on Guthrie cards.从滤纸片上的干血斑进行聚合酶链反应扩增。
Lancet. 1990 Sep 8;336(8715):639-40. doi: 10.1016/0140-6736(90)93446-v.
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
Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.
Biochem Biophys Res Commun. 1991 Feb 14;174(3):1324-30. doi: 10.1016/0006-291x(91)91567-v.