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Genome instability in a region of human DNA enriched in Alu repeat sequences

Abstract

DNA rearrangements involving restriction fragment length polymorphism and variation in copy number were detected in the human genome by blot hybridization with a cloned segment of human DNA initially present in a cluster of Alu repeat sequences. These rearrangements involve both extrachromosomal circular duplex DNAs and integrated sequences, indicating the presence of transposable elements in human cells.

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Calabretta, B., Robberson, D., Barrera-Saldaña, H. et al. Genome instability in a region of human DNA enriched in Alu repeat sequences. Nature 296, 219–225 (1982). https://doi.org/10.1038/296219a0

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