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

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。

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引用本文的文献

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Screening of mtDNA mutations in Italian LHON pedigrees.意大利LHON家系中线粒体DNA突变的筛查。

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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。

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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.

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