论文部分内容阅读
自从Nass首次报道了线粒体含有DNA以来,在25年多的时间里线粒体DNA(mtDNA)的研究为基础分子生物学和进化论作出了许多贡献。去年发表的许多文章表明,mtDNA也成了人类疾病方面的一个决定性的因素。其中一篇报道了人类mtDNA中单个碱基的改变与利伯氏遗传性视神经病(LHON)的出现具有一定的相关性。LHON是一种由中枢视神经坏死而导致受累个体在20几岁时失明的疾病。尽管通过观察LHON仅由母系遗传,使人们猜想线粒体可能参与这一过程,但直到Wallace实验室对一个大的LHON家系中一个受累个体的绝大部分mtDNA进行序列测定,并通过与
Since Nass reported for the first time that mitochondria contain DNA, the study of mitochondrial DNA (mtDNA) has contributed much to basic molecular biology and evolution theory for more than 25 years. Many articles published last year showed that mtDNA has also become a decisive factor in human diseases. One of them reported that a single base change in human mtDNA has a certain correlation with the occurrence of Leber’s hereditary optic neuropathy (LHON). LHON is a disease caused by necrosis of the central optic nerve that causes affected individuals to become blind in their twenties. Although it was suspected that mitochondria may be involved in this process by observing that LHON is only inherited from the maternal line, it was not until the Wallace Laboratories sequenced most of the mtDNA of an affected individual in a large LHON family and passed