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Analysis of mitochondrial DNA mutations: point mutations

Lookup NU author(s): Professor Robert Taylor, Dr Richard Andrews, Professor Patrick Chinnery, Emeritus Professor Doug Turnbull


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Since the first demonstration that mutations of the mitochondrial genome were associated with human disease, more than 100 pathological mitochondrial DNA (mtDNA) defects have been characterized in patients with a broad spectrum of clinical manifestations. Single-point mutations, involving either protein-encoding genes or more commonly RNA (rRNA and tRNA) genes, represent a substantial proportion (more than one third) of the pathogenic mtDNA mutations described in the literature, and this number is steadily increasing. Although some of the more common mtDNA point mutations can be screened using simple polymerase chain reaction (PCR)-based techniques (e.g., restriction digest analysis), an increasing number of pathological point mutations are identified only when large-scale sequencing of either all 22 tRNA genes or the whole mitochondrial genome is performed.

Publication metadata

Author(s): Taylor RW, Andrews RM, Chinnery PF, Turnbull DM

Editor(s): Barnett, YA; Barnett, CR

Publication type: Book Chapter

Publication status: Published

Book Title: Ageing Methods and Protocols

Year: 2000

Volume: 38

Pages: 265-277

Publisher: Humana Press

Place Published: New Jersey


DOI: 10.1385/1-59259-070-5:2


Library holdings: Search Newcastle University Library for this item

ISBN: 9780896035829