人线粒体DNA是含有16569 bp的闭环双链分子.它为13种氧化磷酸作用酶的亚单位、结构rRNAs和tRNAs编码.近年来很多引起人类疾病的线粒体DNA突变已被确定,如眼盲、耳聋、心力衰竭和人类退行性疾病等.线粒体DNA疾病可能比先前想象的多.
The human mitochondrial DNA (mtDNA)is a 16569 bP closed circular double helix molecule.It codes for 13 subunits of oxidative phosphorylation (OXPHOS ) enzyme plus the structural rRNAs and tRNAs. Over the past years,a number of mtDNA mutations that cause human diseases have been identified,such as blindness,deafness,cardiac failure,and human degenerative diseases. Mitochondrial DNA diseases may be much more common than previously thought.
蒋秉坤.线粒体DNA和疾病[J].生物化学与生物物理进展,1995,22(1):18-22
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