Duplications of mitochondrial DNA in mitochondrial myopathy.
作者： Joanna Poulton , MaryE. Deadman , R. Mark Gardiner
DOI: 10.1016/S0140-6736(89)91256-7
关键词: Population 、 Gene duplication 、 Mitochondrial myopathy 、 Mutation 、 Human mitochondrial genetics 、 Lineage (genetic) 、 Genetics 、 Biology 、 Mitochondrial DNA 、 Mitochondrion
摘要: Restriction enzyme analysis was done on total cellular DNA extracted from whole blood in two patients with mitochondrial myopathy and multisystem involvement their families. The had an abnormal genome a large (about 8 kb) duplication present several tissues. Normal (mtDNA) also present, but within each maternal lineage the confined to clinically affected individuals. This observation, together failure of extensive population surveys identify such abnormalities mtDNA, suggests that these mutations cause disease.
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