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We report a new case of a large, homoplasmic Control Region deletion in human mitochondrial DNA. A missing 154bp 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.

Y-chromosome haplogroups constructed from SNP markers of Y-specific regions have been largely used in population genetic trials. These data might also be applied to forensic studies on human populations showing multiethnic admixture. Haplogroups have evidenced differential ethnic and geographic distribution. The objective of the present report was to analyze 775 male samples for 16 Y-SNP by PCR-RFLP and to describe haplogroup frequencies in three Argentine geographic regions: Central-West (Cuyo), Center, and North-West.

The development of the molecular biology techniques has made possible the study of the genetic background of American populations where a substantial contribution of the aboriginal component exists, but its individuals had lost the ethnic identity because of dramatic historical, cultural and social changes. The aim of the present work was to investigate the origin of the paternal lineages present in La Esperanza (Jujuy, Argentina), a population originated at the end of XVIII century as a consequence of the installation of a sugar plantation. DNA of 37 non-related males was purified from buccal swabs and subjected to STR PCR amplification of 11 Y chromosome loci using a commercial kit. In addition, 4 binary markers commonly used in diagnosis of ethnic origin (DYS199, M89, M207, and M173) were characterized by RFLP-PCR. From the 37 individuals analyzed, 34 different STRs based haplotypes were observed, 31 of them being unique, which shows the high heterogeneity of the genetic composition of the population. A search in the Y-Haplotype Chromosome Reference Database allowed to identify 11 Amerindian, 14 European, 2 Arabs and 2 Africans haplotypes. The 8 remaining haplotypes were not possible to assign unequivocally. On the other hand, the analysis of binary markers permits to include all the individuals analyzed (29) into a known haplogroup: 17 individuals carry the haplogroup Q1a3a (Amerindian), 9 the R1 (European), 1 the R (European) and 2 F (Eurasian). We conclude that the STRs and binary markers should be used jointly to get more accurate information about the ethnic origin and genetic diversity of human populations.