METHODS AND COMPOSITIONS FOR DETECTING INTERNAL TANDEM DUPLICATION MUTATIONS

摘要

The present invention relates to the field of diagnostics methods and compositions. More specifically, the present invention provides methods for detecting internal tandem duplication (ITD) mutations. In a specific embodiment, a method for detecting an internal tandem duplication in the genome of a cell comprising the steps of (a) providing a DNA sample isolated from the cell; (b) contacting the DNA sample with a forward primer that hybridizes within the tandem duplicated sequence; (c) contacting the DNA sample with a reverse primer upstream of the forward primer that hybridizes within the tandem duplicated sequence; (d) amplifying the region between the two primers; and (e) identifying the cell as containing an internal tandem duplication if an amplification product of the expected size is detected.