Exclusive homoplasmic 11778 mutation in mitochondrial DNA of Chinese patients with Leber's hereditary optic neuropathy.
OBJECTIVE
To investigate the degree of heteroplasmy of the 11778 mtDNA mutation in Chinese patients with Leber's hereditary optic neuropathy (LHON).


METHODS
Seventeen Chinese Leber's pedigrees, including 24 patients, 17 unaffected maternal lineages, 4 internal controls, and 6 unrelated controls, were screened for the 11778 mtDNA mutation. This was carried out by analysis of the restriction fragment length polymorphism, single-strand conformation polymorphism, and DNA sequencing.


RESULTS
All patients and unaffected maternal lineages, regardless of their symptoms, had homoplastic 11778 mtDNA mutation, which was revealed by restriction fragment length polymorphism analysis and single-strand conformation polymorphism analysis.


CONCLUSIONS
Exclusive homoplasmy of the 11778 mtDNA mutation in Chinese LHON patients was found in this study. Homoplasmy of the 11778 mtDNA mutation cannot account for the variation in the clinical phenotype of Chinese Leber's patients.
Yen
M Y
MY
Department of Ophthalmology, Taipei Veterans General Hospital, National Yang-Ming University, Taiwan, Republic of China.
Lee
H C
HC
Wang
A G
AG
Chang
W L
WL
Liu
J H
JH
Wei
Y H
YH
D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D015418:Optic Atrophies, Hereditary / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018807:Polymorphism, Single-Stranded Conformational
D004272:DNA, Mitochondrial