Application of dual-genome oligonucleotidearray-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes

@article{Chinault2009ApplicationOD,
  title={Application of dual-genome oligonucleotidearray-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes},
  author={Alan Craig Chinault and Chad A. Shaw and Ellen K. Brundage and Lin-Ya Tang and L. J. C. Wong},
  journal={Genetics in Medicine},
  year={2009},
  volume={11},
  pages={518-526}
}
Purpose: Mitochondrial disorders constitute a group of clinically and genetically heterogeneous diseases for which molecular diagnosis has been a challenge. The current procedures for diagnosis of mitochondrial DNA deletion and depletion syndromes based on Southern analysis and quantitative polymerase chain reaction are particularly inefficient for determining important parameters of deletion endpoints and percent heteroplasmy. We have developed an improved approach for routine analyses of… CONTINUE READING