Leber视神经萎缩患者白细胞线粒体DNA的限制性内切酶分析
Restriction endonuclease analysis of leukocyte mitochondrial DNA in Leber's optic atrophy.
作者信息
Holt I J, Miller D H, Harding A E
机构信息
University Department of Clinical Neurology, Institute of Neurology, London, UK.
出版信息
J Neurol Neurosurg Psychiatry. 1988 Aug;51(8):1075-7. doi: 10.1136/jnnp.51.8.1075.
Abstract
In order to test the hypothesis that Leber's optic atrophy may be caused by mutation of the mitochondrial (mt) genome, restriction fragment length polymorphism in leukocyte mt DNA was studied in 16 patients with Leber's optic atrophy, 28 of their unaffected matrilineal relatives, and 35 normal control subjects. No differences in restriction fragment patterns were observed between affected and unaffected individuals in the same maternal line, and there was no evidence of major deletion of mt DNA in patients. This study provides no positive evidence of mitochondrial inheritance in Leber's optic atrophy but does not exclude it.
摘要
为了检验莱伯遗传性视神经萎缩可能由线粒体（mt）基因组突变引起这一假说，对16例莱伯遗传性视神经萎缩患者、28例其未患病的母系亲属以及35名正常对照者的白细胞mt DNA中的限制性片段长度多态性进行了研究。在同一母系中，患病个体与未患病个体之间未观察到限制性片段模式的差异，且患者中没有mt DNA大片段缺失的证据。本研究未提供莱伯遗传性视神经萎缩存在线粒体遗传的肯定证据，但也未排除这种可能性。
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本文引用的文献
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