Andreassen Rune
Rettsmedisinsk institutt, Universitetet i Oslo og Bioingeniørutdanningen Avdeling Helsefag, Høgskolen i Oslo.
Tidsskr Nor Laegeforen. 2004 Sep 23;124(18):2345-9.
The sequencing of the human genome has revealed that almost half of the genome consists of interspersed repeats. Among the different types of interspersed repeats in humans, Alu elements are the most frequent ones, and new Alu elements are still integrated into new positions in the humane genome. In this review some consequences of this Alu activity are discussed. The first part of the review is focused on Alu element activity that causes genetic disease while the use of Alu elements as genetic tools for several purposes is discussed in the last part.
This review article is based on a literature search on Medline.
Alu elements cause disease by two different mechanisms. A de novo insertion of an Alu element into, or close to, a gene may disrupt its normal function, while homologous recombination between two Alu elements may result in deletions or duplications that cause genetic disease. The high density of Alu elements in the human genome combined with their absence in non-primate species make them useful as genetic tools. Alu elements also represent "molecular fossils" that give phylogenetic information about primates as well as information about historical DNA rearrangements in the human genome.
人类基因组测序显示，几乎一半的基因组由散布重复序列组成。在人类不同类型的散布重复序列中，Alu元件最为常见，并且新的Alu元件仍在整合到人类基因组的新位置。在这篇综述中，将讨论这种Alu活性的一些后果。综述的第一部分聚焦于导致遗传疾病的Alu元件活性，而最后一部分将讨论将Alu元件用作多种用途的遗传工具的情况。
这篇综述文章基于对医学文献数据库（Medline）的文献检索。
Alu元件通过两种不同机制导致疾病。Alu元件从头插入到基因中或其附近可能会破坏其正常功能，而两个Alu元件之间的同源重组可能导致缺失或重复，从而引发遗传疾病。人类基因组中Alu元件的高密度以及它们在非灵长类物种中的缺失，使它们成为有用的遗传工具。Alu元件也代表“分子化石”，提供有关灵长类动物的系统发育信息以及人类基因组中历史DNA重排的信息。
