University of Cambridge, Cambridge Biomedical Campus

2 ARTICLES PUBLISHED IN JoVE

Medicine

Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction

Stephen P. Burr^1,2, Patrick F. Chinnery^1,2

¹Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge Biomedical Campus, ²Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge Biomedical Campus

Here we present a protocol for measuring absolute mitochondrial (mt)DNA copy number and mtDNA deletion heteroplasmy levels in single cells.

Medicine

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Pavel A. Nash¹, Pedro Silva-Pinheiro¹, Michal A. Minczuk¹

¹Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge Biomedical Campus

Pyrosequencing assays enable the robust and rapid genotyping of mitochondrial DNA single nucleotide polymorphisms in heteroplasmic cells or tissues.

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