IMBICE 05372
INSTITUTO MULTIDISCIPLINARIO DE BIOLOGIA CELULAR
Unidad Ejecutora - UE
artículos
Título:
An homoplasmic large deletion in mtDNA Control Region: Case report
Autor/es:
MOTTI JMB; ALFARO EL; DIPIERRI JE; MUZZIO M; RAMALLO V; SANTOS MR; IRWIN JA; SCHEIBLE M; SAUNIER JL; COBLE MD; BAILLIET G; BRAVI CM
Revista:
Forensic Science International: Genetics Supplement Series.
Editorial:
Elsevier
Referencias:
Año: 2009 vol. 2 p. 219 - 220
ISSN:
1875-1768
Resumen:
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.
