Gómez-Pérez Luis, Alfonso-Sánchez Miguel A, Pérez-Miranda Ana M, García-Obregón Susana, Builes Juan J, Bravo Maria L, De Pancorbo Marian M, Peña José A
Departamento de Genética, Antropología Física y Fisiología Animal, Universidad del País Vasco (UPV/EHU), Bilbao, Spain.
Ann Hum Biol. 2010 Aug;37(4):488-500. doi: 10.3109/03014460903433810.
This work was intended to gain insights into the admixture processes occurring in Latin American populations by examining the genetic profiles of two ethnic groups from Antioquia (Colombia).
To analyse the genetic variability, eight Alu insertions were typed in 64 Afro-Colombians and a reference group of 34 Hispanics (Mestizos). Admixture proportions were estimated using the Weighted Least Squares and the Gene Identity methods. The usefulness of the Alu elements as Ancestry Informative Markers (AIMs) was evaluated through differences in weighted allelic frequencies (delta values) and by hierarchical analysis of the molecular variance (AMOVA).
The Afro-Colombian gene pool was largely determined by the African component (88.5-88.8%), but the most prominent feature was the null contribution of European genes. Mestizos were characterized by a major European component (60.0-63.8%) and a comparatively low proportion of Amerindian (19.2-20.7%) and African (17.0-19.3%) genes. Five of the Alu loci examined (ACE, APO, FXIIIB, PV92 and TPA25) showed an adequate resolving power to differentiate between continental groups, as indicated by delta values and AMOVA results.
The peculiarity of the Afro-Colombian gene pool seems to be associated with intense genetic drift episodes that occurred in isolated communities founded by small groups of runaway slaves. ACE, APO, FXIIIB, PV92 and TPA25 could be efficiently utilized in studies dealing with demographic history and biogeographical ancestry in human populations.
本研究旨在通过检测来自安蒂奥基亚（哥伦比亚）的两个族群的基因概况，深入了解拉丁美洲人群中发生的混合过程。
为分析遗传变异性，在64名非裔哥伦比亚人和34名西班牙裔（混血儿）参照组中对8个Alu插入序列进行分型。使用加权最小二乘法和基因同一性方法估计混合比例。通过加权等位基因频率差异（δ值）和分子方差分层分析（AMOVA）评估Alu元件作为祖先信息标记（AIMs）的效用。
非裔哥伦比亚人的基因库在很大程度上由非洲成分决定（88.5 - 88.8%），但最显著的特征是欧洲基因没有贡献。混血儿的特征是欧洲成分占主要部分（60.0 - 63.8%），美洲印第安人（19.2 - 20.7%）和非洲人（17.0 - 19.3%）基因的比例相对较低。如δ值和AMOVA结果所示，所检测的5个Alu位点（ACE、APO、FXIIIB、PV92和TPA25）显示出足够的分辨能力来区分不同大陆群体。
非裔哥伦比亚人基因库的特殊性似乎与由一小群逃亡奴隶建立的孤立社区中发生的强烈遗传漂变事件有关。ACE、APO、FXIIIB、PV92和TPA25可有效地用于人类群体人口历史和生物地理祖先的研究。
