Multiplex analysis of mitochondrial DNA pathogenic and polymorphic sequence variants

  title={Multiplex analysis of mitochondrial DNA pathogenic and polymorphic sequence variants},
  author={Jason C. Poole and Vincent Procaccio and Marty C. Brandon and Greg Merrick and Douglas C. Wallace},
  booktitle={Biological chemistry},
Abstract The mitochondrial DNA (mtDNA) encompasses two classes of functionally important sequence variants: recent pathogenic mutations and ancient adaptive polymorphisms. To rapidly and cheaply evaluate both classes of single nucleotide variants (SNVs), we have developed an integrated system in which mtDNA SNVs are analyzed by multiplex primer extension using the SNaPshot system. A multiplex PCR amplification strategy was used to amplify the entire mtDNA, a computer program identifies optimal… 

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