Argentinean Mitochondrial DNA sequence database

. MARIA CECILIA BOBILLO, BETTINA ZIMMERMANN, ANDREA SALA, GABRIELA HUBER, ALEXANDER RÖCK, DANIEL CORACH, WALTHER PARSON

Buenos Aires

Congreso; 23rd ISFG World Congress; 2009

ISFG-GEP

Mitochondrial DNA analysis was one of the first tools to be used for the study of the evolutionary history of mankind and it was early focused in the Americas. In order to further understand the genetic characteristics of the extant population of Argentina and to obtain a high quality database a set of 400 samples from 8 Argentinean provinces were analyzed following EMPOP guidelines. The analysis resulted in 331 distinct Control Region (CR) haplotypes. There were observed 2 groups of 5 identical CR sequences and 7 groups of 3 identical haplotypes. Numerous point heteroplasmies and transversions were observed, and in addition to described deletions (i.e. 249, 290, 291) a rare deletion event at position 469 as well as the “Chibcha deletion motif” 106-111 were observed. The haplogroup assignment confirm the Amerindian motifs in 57% of the samples (13,75% A and C; 14,75% B and D), 2,25% belonged to African haplogroups and the rest of the samples fitted in one of the European haplogroups representing 40,75% of the total population. The results obtained in the present work reinforce the need to construct a local database to be used in forensic and anthropological investigations.