University of Cambridge, Cambridge Biomedical Campus 2 articles published in JoVE 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. Medicine Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction Stephen P. Burr1,2, Patrick F. Chinnery1,2 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.
