ALFARO GOMEZ emma laura
An homoplasmic large deletion in mtDNA Control Region: Case report
MOTTI J.M.B, 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
FORENSIC SCIENCE INTERNATIONAL.
Año: 2009 p. 219 - 220
We report a new case of a large, homoplasmic Control Region deletion in human mitochondrial DNA. A missing 154 bp fragment spanning positions 1615416307 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.