UNIT 9.9 Molecular Analysis of Oxidative Phosphorylation Diseases for Detection of Mitochondrial DNA Mutations
Published Online: 1 MAY 2001
Copyright © 2003 by John Wiley and Sons, Inc.
Lab Protocol Title
Current Protocols in Human Genetics
How to Cite
Shoffner, J. M. 2001. Molecular Analysis of Oxidative Phosphorylation Diseases for Detection of Mitochondrial DNA Mutations. Current Protocols in Human Genetics. 13:9.9.1–9.9.26.
- Published Online: 1 MAY 2001
- Published Print: MAY 1997
Oxidative phosphorylation (OXPHOS) diseases are caused by inherited or spontaneously occurring mutations in the mitochondrial DNA (mtDNA) or the nuclear DNA. Mutations in the mtDNA can be classified into two groups, rearrangements and point mutations. This unit describes a method for detecting rearrangements of the mtDNA, which involves Southern blot hybridization. Another protocol detects mtDNA point mutations using restriction analysis of polymerase chain reaction (PCR) products. The Southern blot method requires an mtDNA-specific probe.