Lucas-Sánchez Marcel, Serradell Jose M, Comas David
Departament de Ciències Experimentals i de la Salut, Institut de Biologia Evolutiva (CSIC-UPF), Universitat Pompeu Fabra, 08003 Barcelona, Spain.
Hum Mol Genet. 2021 Apr 26;30(R1):R17-R23. doi: 10.1093/hmg/ddaa261.
Compared with the rest of the African continent, North Africa has provided limited genomic data. Nonetheless, the genetic data available show a complex demographic scenario characterized by extensive admixture and drift. Despite the continuous gene flow from the Middle East, Europe and sub-Saharan Africa, an autochthonous genetic component that dates back to pre-Holocene times is still present in North African groups. The comparison of ancient and modern genomes has evidenced a genetic continuity in the region since Epipaleolithic times. Later population movements, especially the gene flow from the Middle East associated with the Neolithic, have diluted the genetic autochthonous component, creating an east to west gradient. Recent historical movements, such as the Arabization, have also contributed to the genetic landscape observed currently in North Africa and have culturally transformed the region. Genome analyses have not shown evidence of a clear correlation between cultural and genetic diversity in North Africa, as there is no genetic pattern of differentiation between Tamazight (i.e. Berber) and Arab speakers as a whole. Besides the gene flow received from neighboring areas, the analysis of North African genomes has shown that the region has also acted as a source of gene flow since ancient times. As a result of the genetic uniqueness of North African groups and the lack of available data, there is an urgent need for the study of genetic variation in the region and its implications in health and disease.
与非洲大陆其他地区相比,北非提供的基因组数据有限。尽管如此,现有的遗传数据显示出一个复杂的人口统计学场景,其特征是广泛的混合和漂变。尽管有来自中东、欧洲和撒哈拉以南非洲的持续基因流动,但可追溯到全新世前时期的本土遗传成分仍存在于北非群体中。古代和现代基因组的比较证明了自旧石器时代晚期以来该地区的遗传连续性。后来的人口迁移,特别是与新石器时代相关的来自中东的基因流动,稀释了本土遗传成分,形成了从东到西的梯度。最近的历史迁移,如阿拉伯化,也对目前在北非观察到的遗传格局做出了贡献,并在文化上改变了该地区。基因组分析没有显示出北非文化和遗传多样性之间存在明显关联的证据,因为整体上塔马齐格特语(即柏柏尔语)使用者和阿拉伯语使用者之间没有遗传分化模式。除了从邻近地区获得的基因流动外,对北非基因组的分析表明,该地区自古以来也是基因流动的一个来源。由于北非群体的遗传独特性以及缺乏可用数据,迫切需要对该地区的遗传变异及其对健康和疾病的影响进行研究。