Brdicka R, Jirăsek A
Ustav hematologie a krevní transfuze, Praha.
Cas Lek Cesk. 1994 Nov 7;133(21):657-9.
Analysis of the mitochondrial genome contributed towards the elucidation of a number of deviations-deletions or point mutations in mtDNA which are considered the cause of some pathological conditions, usually neuro- and myopathies. The distribution of defective mtDNA in the affected organism is uneven not only at the tissue or organ level but there are also marked differences between individual cells. Maternal heredity assumed for the mitochondrial genome is apparent only in some families, frequently also autosomal dominant heredity is found.
线粒体基因组分析有助于阐明线粒体DNA中的一些偏差——缺失或点突变,这些被认为是某些病理状况的病因,通常是神经和肌肉疾病。缺陷线粒体DNA在受影响生物体中的分布不仅在组织或器官水平上不均匀,而且在个体细胞之间也存在显著差异。线粒体基因组假定的母系遗传仅在一些家族中明显,常也发现常染色体显性遗传。