Frequency and Pattern of Heteroplasmy in the Control Region of Human Mitochondrial DNA

  title={Frequency and Pattern of Heteroplasmy in the Control Region of Human Mitochondrial DNA},
  author={Cristina Santos and Blanca Sierra and Luis {\'A}lvarez and Amanda Ramos and Elisabet Fern{\'a}ndez and R. M. Nogu{\'e}s and Mar{\'i}a Pilar Aluja},
  journal={Journal of Molecular Evolution},
In this work, we present the results of the screening of human mitochondrial DNA (mtDNA) heteroplasmy in the control region of mtDNA from 210 unrelated Spanish individuals. Both hypervariable regions of mtDNA were amplified and sequenced in order to identify and quantify point and length heteroplasmy. Of the 210 individuals analyzed, 30% were fully homoplasmic and the remaining presented point and/or length heteroplasmy. The prevalent form of heteroplasmy was length heteroplasmy in the poly(C… 
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  • 2004
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