TY - JOUR
T1 - Exclusive homoplasmic 11778 mutation in mitochondrial DNA of Chinese patients with Leber's hereditary optic neuropathy
AU - Yen, May Yung
AU - Lee, Hsin Chen
AU - Wang, An Guor
AU - Chang, Wei Ling
AU - Liu, Jorn Hon
AU - Wei, Yau Huei
PY - 1999/5
Y1 - 1999/5
N2 - Purpose: 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. Conclusion: 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.
AB - Purpose: 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. Conclusion: 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.
KW - 11778 mutation
KW - Chinese Leber's hereditary optic neuropathy
KW - Homoplasmy
KW - Mitochondrial DNA
UR - http://www.scopus.com/inward/record.url?scp=0033136971&partnerID=8YFLogxK
U2 - 10.1016/S0021-5155(99)00008-8
DO - 10.1016/S0021-5155(99)00008-8
M3 - 文章
C2 - 10413253
AN - SCOPUS:0033136971
SN - 0021-5155
VL - 43
SP - 196
EP - 200
JO - Japanese Journal of Ophthalmology
JF - Japanese Journal of Ophthalmology
IS - 3
ER -