A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

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Article

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

American journal of human genetics - 1 Jun 1991

Huoponen K, Vilkki J, Aula P, Nikoskelainen E K, Savontaus M L

Abstract excerpt

A single base mutation at nucleotide position 3460 (nt 3460) in the ND1 gene in human mtDNA was found to be associated with Leber hereditary optic neuroretinopathy (LHON). The G-to-A mutation converts an alanine to a threonine at the 52d codon of the gene. The mutation also abolishes an AhaII restriction site and thus can be detected easily by RFLP analysis. The mutation was found in three independent Finnish...

Topics

Animals
Base Sequence
Blotting, Southern
DNA
DNA, Mitochondrial
Finland
Humans
Molecular Sequence Data
Mutation
Oligonucleotide Probes
Optic Atrophies, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Sequence Alignment

Sequence Homology, Nucleic Acid

Species Specificity

Source

Open in PubMed Open full text

Identifiers

PMID: 1674640
PMCID: PMC1683111

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1674640-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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