Tandem direct duplications of mitochondrial DNA in mitochondrial myopathy: analysis of nucleotide sequence and tissue distribution
- 31 December 1988
- journal article
- research article
- Published by Oxford University Press (OUP) in Nucleic Acids Research
- Vol. 17 (24) , 10223-10229
- https://doi.org/10.1093/nar/17.24.10223
Abstract
Two patients with direct tandem duplications of mitochondrial DNA (mtDNA) and mitochondrial myopathy are described. The breakpoint regions between duplicated segments were amplified using the polymerase chain reaction (PCR), cloned and sequenced. The distribution of normal and abnormal genomes in different tissues was investigated using Southern hybridisation, and in different cells within the same tissue using PCR. In each case the gene for cytochrome oxidase subunit I (MTCOX1) was interrupted, creating reading frames which is transcribed and translated would result in truncated versions of this peptide. Heteroplasmy and mosaicism for the abnormal mtDNA population was apparent.This publication has 15 references indexed in Scilit:
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