An homoplasmic large deletion in mtDNA Control Region: Case report

MOTTI JMB; MUZZIO M; RAMALLO V; SANTOS MR; ALFARO EL; DIPIERRI JE; SCHEIBLE M; SAUNIER J; IRWIN J; COBLE M; BAILLIET G; BRAVI C

Forensic Science International: Genetics Supplement Series.

Elsevier

Lugar: Amsterdam; Año: 2009 vol. 2 p. 219 - 220

1875-1768

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.