Cherni Loth, Frigi Sabeh, Ennafaa Hajer, Mtiraoui Nabil, Mahjoub Touhami, Benammar-Elgaaied Amel
Laboratory of Molecular Genetics, Immunology and Human Pathology at the Faculty of Sciences of Tunis, University El Manar, 2092 Tunis, Tunisia.
Hum Biol. 2011 Oct;83(5):611-26. doi: 10.3378/027.083.0503.
Several features make Alu insertions a powerful tool used in population genetic studies: the polymorphic nature of many Alu insertions, the stability of an Alu insertion event and, furthermore, the ancestral state of an Alu insertion is known to be the absence of the Alu element at a particular locus and the presence of an Alu insertion at the site that forward mutational change. This study analyses seven Alu insertion polymorphisms in a sample of 297 individuals from the autochthonous population of Tunisia (Thala, Smar, Zarzis, and Bou Salem) and Libya with the aim of studying their genetic structure with respect to the populations of North Africa, Western, Eastern and Central Europe. The comparative analyses carried out using the MDS and AMOVA methods reveal the existence of spatial heterogeneity, and identify four population groups. Study populations (Libya, Smar, Zarzis, and Bou Salem) are closest to North African populations whereas Thala is isolated and is closest to Western European populations. In conclusion, Results of the present study support the important role that migratory movements have played in the North African gene pool, at least since the Neolithic period.
几个特征使Alu插入成为群体遗传学研究中一种强大的工具:许多Alu插入的多态性本质、Alu插入事件的稳定性,此外,已知Alu插入的祖先状态是特定基因座处不存在Alu元件,而在发生正向突变变化的位点存在Alu插入。本研究分析了来自突尼斯(塔拉、斯马尔、扎尔齐斯和布萨利姆)和利比亚本土人群的297名个体样本中的7种Alu插入多态性,目的是研究他们相对于北非、西欧、东欧和中欧人群的遗传结构。使用MDS和AMOVA方法进行的比较分析揭示了空间异质性的存在,并识别出四个群体组。研究群体(利比亚、斯马尔、扎尔齐斯和布萨利姆)与北非人群最接近,而塔拉则是孤立的,与西欧人群最接近。总之,本研究结果支持了至少自新石器时代以来迁徙运动在北非基因库中所起的重要作用。