An homoplasmic large deletion in mtDNA Control Region: Case report

J. M.B. Motti, E. L. Alfaro, J. E. Dipierri, M. Muzzio, V. Ramallo, M. R. Santos, J. A. Irwin, M. Scheible, J. L. Saunier, M. D. Coble, G. Bailliet, C. M. Bravi

Research output: Contribution to journalArticlepeer-review


We report a new case of a large, homoplasmic Control Region deletion in human mitochondrial DNA. A missing 154 bp fragment spanning positions 16154-16307 was found in an apparently healthy blood donor from Salta (NW Argentina) whose maternal lineage was attributable to Native American haplogroup D1. The same mutation, to the best of our knowledge, has been independently reported before only twice, in both homoplasmic and heteroplasmic states.

Original languageEnglish
Pages (from-to)219-220
Number of pages2
JournalForensic Science International: Genetics Supplement Series
Issue number1
StatePublished - Jan 2009


  • Argentina
  • Control Region
  • Deletion
  • mtDNA


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