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The Isolation and Deep Sequencing of Mitochondrial DNA

Lookup NU author(s): Alex Bury, Dr Fiona Robertson, Dr Angela Pyle, Dr Brendan PayneORCiD, Professor Gavin Hudson


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© 2021, Springer Science+Business Media, LLC, part of Springer Nature.In recent years, next-generation sequencing (NGS) has become a powerful tool for studying both inherited and somatic heteroplasmic mitochondrial DNA (mtDNA) variation. NGS has proved particularly powerful when combined with single-cell isolation techniques, allowing the investigation of low-level heteroplasmic variants both between cells and within tissues. Nevertheless, there remain significant challenges, especially around the selective enrichment of mtDNA from total cellular DNA and the avoidance of nuclear pseudogenes. This chapter summarizes the techniques needed to enrich, amplify, sequence, and analyse mtDNA using NGS.

Publication metadata

Author(s): Bury AG, Robertson FM, Pyle A, Payne BAI, Hudson G

Publication type: Book Chapter

Publication status: Published

Book Title: Methods in Molecular Biology

Year: 2021

Volume: 2277

Pages: 433-447

Online publication date: 03/06/2021

Acceptance date: 02/04/2018

Series Title: Methods in Molecular Biology

Publisher: Humana Press Inc.

Place Published: Humana, New York


DOI: 10.1007/978-1-0716-1270-5_27

PubMed id: 34080167

Library holdings: Search Newcastle University Library for this item

ISBN: 9781071612699