caa a22 4500 469044845 CHVBK 20180323132821.0 cr unu---uuuuu 170328e19920701xx s 000 0 eng 10.1007/BF01799607 doi (NATIONALLICENCE)springer-10.1007/BF01799607 Poulton J. Departments of Paediatrics and Biochemistry, University of Oxford, South Parks Rd., OX1 3QU, Oxford, UK aut Duplications of mitochondrial DNA: Implications for pathogenesis [Elektronische Daten] [J. Poulton] Summary: This paper describes the mapping data obtained on two patients in whom there was clear evidence for a rearrangement of mitochondrial DNA, using restriction enzyme analysis of DNA from whole blood and of polymerase chain reaction products. This suggested that a direct tandem duplication was present, and this was confirmed by sequence analysis of the junction fragment between duplicated segments. In each case the gene for cytochrome oxidase subunit I (MTCOX1) was interrupted, creating reading frames which, if transcribed and translated, would result in truncated versions of this peptide. Heteroplasmy and mosaicism for the abnormal mtDNA population were apparent. Preliminary data also suggest that high-molecular-weight rearrangements of the duplicated region are present in all tissues. The hypothesis that these duplicated genomes caused the phenotype was investigated by examining the distribution of duplicated genomes in various tissues using Southern hybridization and by RNA analysis. This included Northern blotting and cDNA sequencing. In order to investigate the origins of the duplicated mtDNAs, their distribution in different cells within a tissue was documented using the polymerase chain reaction. SSIEM and Kluwer Academic Publishers, 1992 Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/4(1992-07-01), 487-498 0141-8955 15:4<487 1992 15 10545 https://doi.org/10.1007/BF01799607 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01799607 text/html Onlinezugriff via DOI NATIONALLICENCE 100 1- Poulton J. Departments of Paediatrics and Biochemistry, University of Oxford, South Parks Rd., OX1 3QU, Oxford, UK aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/4(1992-07-01), 487-498 0141-8955 15:4<487 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer