Instituto Multidisciplinario de Biología Celular (IMBICE), Consejo Nacional de Investigaciones Científicas y Técnicas de la Republica Argentina (CONICET)-Comisión de Investigaciones Científicas (CIC)-Universidad Nacional de La Plata (UNLP), La Plata, Argentina.
Centro Nacional Patagónico, CONICET, Puerto Madryn, Argentina.
Hum Biol. 2021 Feb;92(2):63-80. doi: 10.13110/humanbiology.92.2.01.
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 analysis of its variability and assignment of its geographic origin. We have analyzed 442 samples of unrelated men from Argentina and Paraguay belonging to haplogroup Q; here we report specifically on 27 Q (xM3) lineages. We tested 3 single-nucleotide polymorphisms (SNPs) by amplified product-length polymorphism (APLP) analysis, 3 SNPs for restriction fragment length polymorphism (RFLP) analysis, 15 SNPs by Sanger sequencing, and 17 short tandem repeats (STRs). Our approach allowed us to identify five subhaplogroups. Q-M3 and Q-CTS2730/Z780 are undoubtedly autochthonous lineages and represent the most frequent subhaplogroups, with significant representation in self-defined aboriginal populations, and their autochthonous status has been previously described. The aim of present work was to identify the continental origin of the remaining Q lineages. Thus, we analyzed the STR haplotypes for the samples and compared them with haplotypes described by other authors for the rest of the world. Even when haplogroup Q lineages have been extensively studied in America, some of them could have their origin in post-Columbian human migration from Europe and Middle East.
单倍群 Q 起源于约 3 万年前的欧亚大陆。它存在于亚洲和欧洲的 Y 染色体中，频率相当低。由于美洲无疑是该单倍群高度代表的大陆之一，因此它被定义为创始单倍群之一。其 M3 分支很早就被描述为最常见的分支，具有泛美代表性。然而，也有可能在低频下发现其他几个单倍群 Q 分支。已经描述了单倍群 Q 的许多突变，允许对其变异性进行分析，并确定其地理起源。我们分析了来自阿根廷和巴拉圭的 442 名无关男性样本，他们属于单倍群 Q；这里我们专门报告了 27 个 Q（xM3）谱系。我们通过扩增产物长度多态性（APLP）分析测试了 3 个单核苷酸多态性（SNP），通过限制性片段长度多态性（RFLP）分析测试了 3 个 SNP，通过 Sanger 测序测试了 15 个 SNP，通过短串联重复序列（STR）测试了 17 个 SNP。我们的方法允许我们识别出五个亚单倍群。Q-M3 和 Q-CTS2730/Z780 无疑是同源谱系，代表最常见的亚单倍群，在自我定义的土著人群中具有显著的代表性，它们的同源性状态以前已经被描述过。目前工作的目的是确定其余 Q 谱系的大陆起源。因此，我们分析了样本的 STR 单倍型，并将其与其他作者为世界其他地区描述的单倍型进行了比较。即使单倍群 Q 谱系在美国已经得到了广泛的研究，但其中一些可能起源于哥伦布时代后从欧洲和中东的人类迁移。
