Toscanini Ulises, Gusmão Leonor, Berardi Gabriela, Amorim António, Carracedo Angel, Salas Antonio, Raimondi Eduardo
PRICAI-FUNDACION FAVALORO, Buenos Aires, Argentina.
Forensic Sci Int Genet. 2008 Sep;2(4):274-80. doi: 10.1016/j.fsigen.2008.03.001. Epub 2008 May 7.
Two Native American populations from North and northwest regions of Argentina (Toba and Colla) were analyzed for 17 Y chromosome short tandem repeat loci (Y-STRs), namely, DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 and GATA H4.1. Over 357 allele transfers, two one-step mutations could be detected at DYS456 and GATA H4.1 loci. A new 16.1 'micro-variant' allele was observed for DYS385, characterized by an insertion at the fifth GAAA repeat. We also observed two alleles at the DYS448 locus in three samples (two from Toba and one from Colla). A total of 34 and 16 different haplotypes were detected for Toba and Colla, respectively, the former with a haplotype diversity value of 0.9769+/-0.01, whereas 0.9497+/-0.02 for the latter. Significant population differences were observed between Colla and Toba, at least in part, due to a more prevalent European input in the Colla. In agreement with this observation is the fact that the genetic distances between Colla and Iberian populations are lower than those observed between Iberian and any other Native American population. The results of multiscaling dimensional analysis and genetic distances (Rst) among Native American population samples also reflect this fact. The data show the existence of clear population stratification in the Argentina, a fact that should be taken into account in forensic casework.
对来自阿根廷北部和西北部地区的两个美洲原住民群体（托巴族和科亚族）进行了17个Y染色体短串联重复序列位点（Y-STRs）的分析，即DYS19、DYS389I、DYS389II、DYS390、DYS391、DYS392、DYS393、DYS385、DYS437、DYS438、DYS439、DYS448、DYS456、DYS458、DYS635和GATA H4.1。在超过357次等位基因传递中，可在DYS456和GATA H4.1位点检测到两个单步突变。观察到DYS385有一个新的16.1“微变体”等位基因，其特征是在第五个GAAA重复序列处有一个插入。我们还在三个样本（两个来自托巴族，一个来自科亚族）的DYS448位点观察到两个等位基因。托巴族和科亚族分别检测到34种和16种不同的单倍型，前者的单倍型多样性值为0.9769±0.01，而后者为0.9497±0.02。科亚族和托巴族之间观察到显著的群体差异，至少部分原因是科亚族中有更普遍的欧洲血统输入。与这一观察结果一致的是，科亚族与伊比利亚群体之间的遗传距离低于伊比利亚群体与任何其他美洲原住民群体之间观察到的遗传距离。美洲原住民群体样本之间的多尺度维度分析结果和遗传距离（Rst）也反映了这一事实。数据表明阿根廷存在明显的群体分层，这一事实在法医案件工作中应予以考虑。
