Methods for detecting gene dysregulation by intragenic differential expression

摘要

Described herein are methods, compositions and kits directed to the detection of gene dysregulations such as those arising from gene fusions and/or chromosomal abnormalities, e.g., translocations, insertions, inversions and deletions. Samples containing dysregulated gene(s) of interest may show independent expression patterns for the 5′ and 3′ regions of the gene. The methods, compositions and kits are useful for detecting mutations that cause the differential expression of a 5′ portion of a target gene relative to the 3′ region of the target gene.

主权项

1. A method for diagnosing acute myeloid leukemia (AML) or a susceptibility to AML in a subject comprising:
(a) amplifying a 5′ region of a target gene transcript, if present, in a biological sample with one or more 5′ target primer pairs which are complementary to the 5′ region of the target gene; (b) amplifying a 3′ region of the target gene transcript, if present, in the biological sample with one or more 3′ target primer pairs which are complementary to the 3′ region of the target gene; (c) detecting the amounts of amplification products produced by the one or more 5′ target primer pairs and the one or more 3′ target primer pairs; (d) comparing the relative expression of the 5′ region to the 3′ region of the target gene in the biological sample to the relative expression of the 5′ region to the 3′ region of the target gene in a reference sample to determine if the target gene is dysregulated; and (e) diagnosing the subject as having AML or a susceptibility to AML when the comparison of step (d) indicates that the target gene is dysregulated.