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  Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations

Meierhofer, D., Mayr, J. A., Ebner, S., Sperl, W., & Kofler, B. (2005). Rapid screening of the entire mitochondrial DNA for low-level heteroplasmic mutations. Mitochondrion, 5(4), 282-296. doi:10.1016/j.mito.2005.06.001.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0028-8F55-9 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0028-8F5F-6
Genre: Journal Article

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Meierhofer.pdf (Publisher version), 419KB
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© 2005 Elsevier B.V.
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 Creators:
Meierhofer, David1, 2, Author              
Mayr, Johannes A.2, Author
Ebner, Sabine, Author
Sperl, Wolfgang2, Author
Kofler, Barbara2, Author
Affiliations:
1Mass Spectrometry (Head: David Meierhofer), Scientific Service (Head: Christoph Krukenkamp), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479669              
2Department of Paediatrics, Paracelsus Private Medical University Salzburg, A-5020 Salzburg, Austria, ou_persistent22              

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Free keywords: DHPLC; MtDNA; Mutation; Heteroplasmy
 Abstract: Alterations of the mitochondrial DNA (mtDNA) are implicated in various pathological conditions. In this study, we used denaturing high performance liquid chromatography (DHPLC) as a method to rapidly screen the entire mtDNA for mutations. Overlapping DNA fragments, amplified by one single cycling protocol from frozen pre-formulated PCR mixes, were subjected to DHPLC analysis. Single DHPLC injections of fragments yielded straightforward interpretation of results with a detection limit down to 1% mtDNA heteroplasmy. Furthermore, collection and re-amplification of low degree heteroduplex peak-fractions allowed sequence analysis of mtDNA mutations down to the detection limit of the DHPLC method. In order to demonstrate that the method has diagnostic value, we analyzed and confirmed known mtDNA mutations in patient samples.

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Language(s): eng - English
 Dates: 2005-08
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: DOI: 10.1016/j.mito.2005.06.001
 Degree: -

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Title: Mitochondrion
Source Genre: Journal
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Publ. Info: Elsevier
Pages: - Volume / Issue: 5 (4) Sequence Number: - Start / End Page: 282 - 296 Identifier: ISSN: 1567-7249
CoNE: https://pure.mpg.de/cone/journals/resource/1567-7249