Chbel F, de Pancorbo M M, Martinez-Bouzas C, Azeddoug H, Alvarez-Alvarez M, Rodriguez-Tojo M J, Nadifi S
Laboratoire de Génétique Humaine, Faculté de Médecine et de Pharmacie, Laboratoire de BBCM, Faculté de Sciences, Route d'El Jadida, Université Hassan II, Casablanca, Morocco.
Genetika. 2003 Oct;39(10):1398-405.
Alu elements are the largest family of short tandem interspersed elements (SINEs) in human who have arisen to a copy number with an excess of 500,000 copies per haploid human genome and mobilize through an RNAse polymerase III derived transcript in a process termed "retroposition." 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 (complete and exact) of the Alu element at a particular locus and the presence of an Alu insertion at the site that forward mutational change. Here we report on the distribution of six polymorphic Alu insertions in a general Moroccan population and in the Arab and Berber populations from Morocco and their relationships with other populations previously studied. Our results show that there is a small difference between Arabs and Berbers and that the Arab population was closer to African populations than Berber population which is closest to Europeans.
Alu元件是人类中最大的短串联散布元件(SINEs)家族,在单倍体人类基因组中其拷贝数已超过500,000个,并通过一种称为“反转座”的过程,借助核糖核酸酶聚合酶III衍生的转录本进行移动。Alu插入具有几个特点,使其成为群体遗传学研究中一种强大的工具:许多Alu插入具有多态性,Alu插入事件具有稳定性,此外,已知Alu插入的祖先状态是特定基因座处不存在(完全且精确)Alu元件,而在发生正向突变变化的位点存在Alu插入。在此,我们报告了六个多态性Alu插入在摩洛哥普通人群以及摩洛哥阿拉伯和柏柏尔人群中的分布情况,以及它们与先前研究的其他人群的关系。我们的结果表明,阿拉伯人和柏柏尔人之间存在细微差异,并且阿拉伯人群比最接近欧洲人的柏柏尔人群更接近非洲人群。