文章基本信息

标题：Molecular Investigation of Leber’s Hereditary Optic Neuropathy Common Mutations in Suspected Patients
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作者：HR Soleimanpour ، DD Farhud ، SK Bidooki ، L Andonian ، M Togha ، M Khanlari
期刊名称：Iranian Journal of Public Health
印刷版ISSN：2251-6085
电子版ISSN：2251-6093
出版年度：2004
卷号：33
期号：03
页码：1-9
出版社：Tehran University of Medical Sciences
摘要：LHON is a mitochondrial neurodegenerative disorder often manifesting itself in the second or third decade of life, and hence resulting in progressive central vision loss usually in a short period of 2-8 weeks within which different degrees of blindness may occur. Etiologically, more than twenty missense mutations have been reported for LHON, amongst which the three mutations of G11778A, G3460A and T14484C, affecting NADH dehydrogenase complex activity, are recognized as primary mutations. The three primary mutations account for 90% of LHON patients, emphasizing the importance of molecular investigation of these mutations for differential diagnosis of LHON. Using PCR-RFLP, this research resulted in the detection of two LHON families carrying the G11778A mutation in homoplasmy and described the clinical and molecular features of the disease in the patients.
关键词：LHON ، G11778A ، G3460A ، T14484C ، NADH ، PCR-RFLP