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Open Access Green as soon as Postprint is submitted to ZB.
Single lymphocytes from two healthy individuals with mitochondrial point heteroplasmy are mainly homoplasmic.
Int. J. Legal Med. 122, 189-197 (2008)
The nature of mitochondrial DNA heteroplasmy is still unclear. It could either be caused by two mitochondrial DNA (mtDNA) haplotypes coexisting within a single cell or by an admixture of homoplasmic cells, each of which contains only one type of mtDNA molecule. To address this question, single lymphocytes were separated by flow cytometry assisted cell sorting and analyzed by cycle sequencing or minisequencing. To attain the required PCR sensitivity, the reactions were carried out on the surface of chemically structured glass slides in a reaction volume of 1-2 microl. In this study, blood samples from two healthy donors showing mitochondrial point heteroplasmy in direct sequencing (195Y and 234R, respectively) were analyzed. Nearly 96% of single lymphocytes tested were found to be in a homoplasmic state, but heteroplasmic cells were also detected. These results suggest that mitochondrial point heteroplasmy in blood may well be mainly due to the mixture of homoplasmic cells.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Mitochondrial DNA; Sequence heteroplasmy; Single cells; Flow cytometry
ISSN (print) / ISBN
0044-3433
e-ISSN
1437-1596
Quellenangaben
Volume: 122,
Issue: 3,
Pages: 189-197
Publisher
Springer
Reviewing status
Peer reviewed
Institute(s)
Institute of Molecular Immunology (IMI)