Intron-based assay for detecting and characterizing chromosomal rearrangement

摘要

An assay is provided for detecting and characterizing chromosomal rearrangements in eukaryotic cells by genetically engineering a eukaryotic cell to contain a selectable/counter-selectable marker gene with a site for generating a double strand break within an intron of the eukaryotic cell; generating the double strand break; detecting cells which repair the double strand break by chromosomal rearrangements; isolating DNA from the detected cells; and characterizing the chromosomal rearrangement as a nonhomologous translocation, inversion, deletion or insertion.