Haplogroup Q originated in Eurasia around 30,000 years ago. It is present in Y-chromosomes from Asia and Europe at rather low frequencies. Since America is undoubtedly one of the continents where this haplogroup is highly represented, it has been defined as one of the founding haplogroups. Its M3 clade has been early described as the most frequent, with Pan-American representation. However, it was also possible to find several other haplogroup Q clades at low frequencies. Numerous mutations have been described for haplogroup Q, allowing the analysis of its variability and the assignment of its geographic origin. We have analyzed 442 samples belonging to haplogroup Q of unrelated men from Argentina and Paraguay, but this work is specifically referred to 27 Q (xM3) lineages. We tested 3 SNPs by APLP, 3 for RFLP, 15 SNPs by Sanger sequencing, and 17 STRs. Our approach allowed us to identify 5 sub-haplogroups. Q-M3 and Q-CTS2730/Z780 are undoubtedly autochthonous lineages and represent the most frequent sub-haplogroups. With significant representation in self-defined aboriginal populations, their autochthonous status has been previously described. The aim of present work is to identify the continental origin of the remaining Q lineages. Thus, we analyzed the STR haplotypes for the samples of our series and compared them with haplotypes described by other authors for the rest of the world. Even when haplogroup Qs have been extensively studied in America, some of them could have their origin in post Columbian human migration from Europe and Middle East.
Jurado Medina, Laura S.; Paz Sepúlveda, Paula B.; Ramallo, Virginia; Sala, Camila; Beltramo, Julieta; Schwab, Marisol; Motti, Josefina M B; Santos, María Rita; Cuello, Mariela V.; Salceda, Susana; Dipierri, José E.; Alfaro Gómez, Emma L.; Muzzio, Marina; Bravi, Claudio M.; and Bailliet, Graciela, "Continental Origin for Q Haplogroup Patrilineages in Argentina and Paraguay" (2020). Human Biology Open Access Pre-Prints. 177.