Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy.

doi:10.1007/s100380200091

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Article

Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy.

Journal of human genetics - 1 Jan 2002

Sudoyo Herawati, Suryadi Helena, Lertrit Patcharee, Pramoonjago Patcharin, Lyrawati Diana, Marzuki Sangkot

Abstract excerpt

We studied 19 patients of Southeast Asian (SEA) ethnic ancestry with Leber's hereditary optic neuropathy (LHON) to investigate the mtDNA haplotypes associated with the primary mutation(s). Eighteen patients carried a mitochondrial DNA (mtDNA) G11778A mutation (Arg340His in the respiratory complex I ND4 subunit), while one had a T14484C mutation (Met64Val in the ND6 subunit). One patient had a class II LHON mtDNA...

Topics

Asia, Southeastern
DNA, Mitochondrial
Female
Haplotypes
Humans
Male
Mitochondria
Mutation
Optic Atrophy, Hereditary, Leber
Phylogeny
Polymorphism, Single Nucleotide

Source

Open in PubMed

Identifiers

PMID: 12436196
DOI: 10.1007/s100380200091

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