中国Leber遗传性视神经病变患者线粒体DNA中存在纯质性11778突变。
Exclusive homoplasmic 11778 mutation in mitochondrial DNA of Chinese patients with Leber's hereditary optic neuropathy.
作者信息
Yen M Y, Lee H C, Wang A G, Chang W L, Liu J H, Wei Y H
机构信息
Department of Ophthalmology, Taipei Veterans General Hospital, National Yang-Ming University, Taiwan, Republic of China.
出版信息
Jpn J Ophthalmol. 1999 May-Jun;43(3):196-200. doi: 10.1016/s0021-5155(99)00008-8.
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.
目的
研究中国Leber遗传性视神经病变（LHON）患者中11778线粒体DNA（mtDNA）突变的异质性程度。
方法
对17个中国Leber家系进行筛查，包括24例患者、17个未患病的母系、4个内部对照和6个无关对照，检测11778 mtDNA突变。通过限制性片段长度多态性分析、单链构象多态性分析和DNA测序进行检测。
结果
所有患者及未患病的母系，无论其症状如何，经限制性片段长度多态性分析和单链构象多态性分析均显示为纯质性11778 mtDNA突变。
结论
本研究发现中国LHON患者中11778 mtDNA突变均为纯质性。11778 mtDNA突变的纯质性不能解释中国Leber患者临床表型的差异。
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