Chromosomal translocations and inversions are often detected in many types of cancer. Chromosomal translocations result in juxtaposition of segments from two different genes, giving rise to a fusion gene that encodes chimeric proteins with transforming activity.
In general, both genes involved in the fusion contribute to the transforming potential of the chimeric oncoprotein. CE has been applied to the detection of many fusion transcripts, such as the bcr/abl transcript in chronic myeloid leukemia. On the other hand, gene activation often results from chromosomal reorganizations that relocate a proto-oncogene close to the regulatory elements of the IgH or TCR locus.
This event causes deregulation of the proto-oncogene expression, which can then lead to neoplastic transformation of the cell. One of these proto-oncogenes is the BCL-2 gene, which is translocated close to the regulatory element of the IgH gene in persons with follicular Iymphoma. The different PCR products can be resolved by CGE.
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