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Alu repeats and human genomic diversity.

by: M. A. Batzer, P. L. Deininger
Nat Rev Genet, Vol. 3, No. 5. (May 2002), pp. 370-379.
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Abstract

During the past 65 million years, Alu elements have propagated to more than one million copies in primate genomes, which has resulted in the generation of a series of Alu subfamilies of different ages. Alu elements affect the genome in several ways, causing insertion mutations, recombination between elements, gene conversion and alterations in gene expression. Alu-insertion polymorphisms are a boon for the study of human population genetics and primate comparative genomics because they are neutral genetic markers of identical descent with known ancestral states.


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