mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathy.

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Article

mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathy.

European journal of human genetics : EJHG - 1 Jan 2000

Lamminen T, Huoponen K, Sistonen P, Juvonen V, Lahermo P, Aula P, Nikoskelainen E, Savontaus M L

Abstract excerpt

The mitochondrial DNA (mtDNA) sequence variation of 24 Finnish Leber hereditary optic neuroretinopathy (LHON) probands was characterized by sequencing and restriction endonuclease analyses. All LHON-associated substitutions and Caucasoid haplogroup-specific mutations were screened in the families. Analysis of the mtDNAs revealed that the Finnish LHON families have two unique features: an absence of the ND6/14484...

Topics

Adolescent
Adult
Child
DNA, Mitochondrial
Female
Finland
Genetic Heterogeneity
Genetic Variation
Haplotypes
Humans
Male
Middle Aged
Optic Atrophies, Hereditary
Pedigree
Phylogeny
Polymorphism, Restriction Fragment Length
White People

Source

Open in PubMed

Identifiers

PMID: 9412783

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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