Abstract
Leber hereditary optic neuropathy (LHON) is characterized by the acute or subacute bilateral painless loss of central vision, predominantly in young males. G11778A is the most common mitochondrial DNA mutation responsible for the disease. Thirty-seven percent of our LHON pedigrees (which is a much higher prevalence than that generally found) carried heteroplasmic G11778A. Analyses of four large Thai LHON pedigrees spanning four to six generations strongly suggested that the transmission of the heteroplasmic G11778A mutation is under selective pressure in favour of the mutated allele and that heteroplasmy influences the disease expression.
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Acknowledgements
The authors would like to thank Pattamon Tharaphan, Thitima Sanpachudayan and Sarinee Pingsutthiwong for their great assistance in the field trip, Benjamas Intharabut and Treenud Suntisiri for their help in the DNA extraction, Yutthana Joijinda for sequencing the entire mitochondrial genome and Supannee Kaewsutthi and Preeyaphan Meesap for their help in preparing the manuscript. We would also like to thank Dr. Chayanon Peerapittayamongkol for his valuable suggestions with respect to the statistical analysis. This work was supported by the Thailand Research Fund (TRF) grant no. BRG4580018 to Lertrit P.
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Phasukkijwatana, N., Chuenkongkaew, W.L., Suphavilai, R. et al. Transmission of heteroplasmic G11778A in extensive pedigrees of Thai Leber hereditary optic neuropathy. J Hum Genet 51, 1110–1117 (2006). https://doi.org/10.1007/s10038-006-0073-6
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DOI: https://doi.org/10.1007/s10038-006-0073-6
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