Caputo Mariela, Corach Daniel
Servicio de Huellas Digitales Genéticas, School of Pharmacy and Biochemistry, Universidad de Buenos Aires, Buenos Aires, Argentina.
CONICET, National Scientific and Technical Research Council, Buenos Aires, Argentina.
Am J Hum Biol. 2016 Jan-Feb;28(1):57-66. doi: 10.1002/ajhb.22755. Epub 2015 Jun 19.
Genetic data have complemented archaeological and linguistic investigations for understanding the peopling of the Americas. Aiming to investigate the Native South American genetic background in Argentina, seven Amerindian and one urban population were selected. The analysis focused on locus D9S1120 due to its potential anthropological information about Native American origins.
The sample set included 603 individuals belonging to nine isolated Argentinean aboriginal communities from seven tribes (N = 296), 100 individuals living in Buenos Aires city, and three potentially parental population references samples (N = 207). We computed allele and genotype frequency distributions, genetic distances, and pairwise differences among and within them. Admixture proportion was determined by means of typing 13 autosomal short tandem repeats plus D9S1120 in all populations, and comparing the data with those from three parental groups including Native American, European and Sub Saharan West African.
The Native American-specific allele 9RA was found at an average frequency of 0.26 in aboriginal groups. Statistically significant differences were observed among the Native American groups when compared with the Buenos Aires urban population using analysis of molecular variance (AMOVA) (Fst = 0.05669; P < 0.0001). Admixture analysis denoted different results between the cohorts of Amerindian samples displaying the specific 9RA allele, compared with those lacking it. A linear correlation was established between positive 9RA and Native American ancestry.
Autosomal-based genetic admixture showed that the studied communities have considerable European and Native America contributions. Our results concerning D9S1120 further contribute to a better understanding of the admixture process between Sub Saharan African, Native American, and European individuals that shaped the genetic background of Argentinean extant population.
基因数据为理解美洲的人口迁移情况补充了考古学和语言学研究。为了调查阿根廷本土南美人的基因背景,选取了七个美洲印第安人和一个城市人口群体。由于其关于美洲原住民起源的潜在人类学信息,分析聚焦于基因座D9S1120。
样本集包括来自七个部落的九个孤立的阿根廷原住民社区的603人(N = 296)、居住在布宜诺斯艾利斯市的100人以及三个潜在的亲本群体参考样本(N = 207)。我们计算了它们之间以及内部的等位基因和基因型频率分布、遗传距离和成对差异。通过在所有群体中对13个常染色体短串联重复序列加上D9S1120进行分型,并将数据与包括美洲原住民、欧洲人和撒哈拉以南西非人的三个亲本群体的数据进行比较,确定了混合比例。
在原住民群体中发现美洲原住民特有的等位基因9RA的平均频率为0.26。使用分子方差分析(AMOVA)将美洲原住民群体与布宜诺斯艾利斯城市人口进行比较时,观察到统计学上的显著差异(Fst = 0.05669;P < 0.0001)。混合分析表明,显示特定9RA等位基因的美洲印第安人样本队列与缺乏该等位基因的样本队列之间结果不同。在阳性9RA与美洲原住民血统之间建立了线性相关性。
基于常染色体的基因混合表明,所研究的社区有相当大比例的欧洲人和美洲原住民血统贡献。我们关于D9S1120的结果进一步有助于更好地理解塑造阿根廷现存人口基因背景的撒哈拉以南非洲人、美洲原住民和欧洲人个体之间的混合过程。