Mae III positively detects the mitochondrial mutation associated with type I Leber's hereditary optic neuropathy

Edwin M Stone; Jeffrey M Coppinger; Randy H Kardon; John Donelson

doi:10.1001/archopht.1990.01070120065030

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Mae III positively detects the mitochondrial mutation associated with type I Leber's hereditary optic neuropathy

Journal article

Peer reviewed

Mae III positively detects the mitochondrial mutation associated with type I Leber's hereditary optic neuropathy

Edwin M Stone, Jeffrey M Coppinger, Randy H Kardon and John Donelson

Archives of ophthalmology (1960), Vol.108(10), pp.1417-1420

10/1990

DOI: 10.1001/archopht.1990.01070120065030

PMID: 1977373

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Abstract

Leber's hereditary optic neuropathy is a blinding disease that usually causes acute or subacute central visual loss in adolescent and young adult males. In patients who lack a family history of a similar illness, Leber's disease has been a diagnosis of exclusion. The recent discovery of a specific mitochondrial mutation in many pedigrees affected with the disease has provided the basis for rapid molecular diagnosis of one genetic type of Leber's disease. We have developed a new method, based on a Mae III (Boehringer Mannheim Biochemicals, Indianapolis, Ind) restriction fragment length polymorphism, for detecting the Wallace-type Leber's mutation. The method has several advantages over the previously used SfaN I method that make it more suitable for use as a general laboratory test. We demonstrate the utility of this new test in the diagnosis of Leber's disease in a patient with no family history of visual loss.

Polymerase Chain Reaction

Mutation

Optic Atrophies, Hereditary - genetics

Electrophoresis, Polyacrylamide Gel

Humans

Molecular Sequence Data

Male

Visual Acuity

DNA, Mitochondrial - genetics

Polymorphism, Restriction Fragment Length

Pedigree

Base Sequence

Adult

Optic Atrophies, Hereditary - diagnosis

Deoxyribonucleases, Type II Site-Specific

Details

Title: Subtitle: Mae III positively detects the mitochondrial mutation associated with type I Leber's hereditary optic neuropathy
Creators: Edwin M Stone - Department of Ophthalmology, University of Iowa College of Medicine, Howard Hughes Medical Institute, Iowa City
Jeffrey M Coppinger
Randy H Kardon
John Donelson
Resource Type: Journal article
Publication Details: Archives of ophthalmology (1960), Vol.108(10), pp.1417-1420
DOI: 10.1001/archopht.1990.01070120065030
PMID: 1977373
NLM abbreviation: Arch Ophthalmol
ISSN: 0003-9950
eISSN: 1538-3601
Publisher: American Medical Association; United States
Language: English
Date published: 10/1990
Academic Unit: Iowa Neuroscience Institute; Biochemistry and Molecular Biology; Ophthalmology and Visual Sciences
Record Identifier: 9983980036402771

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