INVESTIGADORES
RAMALLO Virginia
congresos y reuniones científicas
Título:
An homoplasmic large deletion in mtDNA control region: case report
Autor/es:
MOTTI JMB,; MUZZIO M; RAMALLO V; SANTOS MR; ALFARO EL; DIPIERRI JE; SCHEIBLE M; SAUNIER J; IRWIN J; COBLE M; BAILLIET G; BRAVI C.
Lugar:
Buenos Aires
Reunión:
Congreso; 23th World Congress of the International Society for Forensic Genetics; 2009
Institución organizadora:
International Society for Forensic Genetics
Resumen:
Introduction and aims: MtDNA control region deletions larger than 6 bp are infrequent in healthy individuals. The aim of the present study is to describe one further case of a large deletion previously reported only twice. Materials and methods: DNA samples from blood or saliva obtained from 3 Native American and 13 admixed populations of Argentina (N=975) were analyzed through complete control region and/or PCR-RFLP typing for haplogroup assignment. Results and Discussion: An homoplasmic, shorter-than-expected HVS-I fragment was obtained in one sampled. "Complete" control region sequencing led us to the discovery of a 154 bp deletion involving positions 16165 through 16307 plus one on the 11 bp-long direct repeats in the flanking positions 16154-16164 and 16308-16318. The same deletion, to the best of our knowledge, has been reported only twice in both heteroplasmic and homoplasmic states. Bua et al (20o6) reported its presence in one out of 48 muscle fibers from 7 individuals while Behar et al (2008) informed its normal, homoplasmic transmission in a Japanese mother-siblings trio. Analysis of control region variation and PCR-RFLP typing of C5178A and C2092T polymorphisms allowed us to assign our deleted lineage to Native American haplogroup D1.