DETECTION OF CHROMOSOMAL INVERSIONS

摘要

A method and a kit for the identification of chromosomal inversions is described. Chromosomal inversions are difficult to detect unless they are quite large. The improved ability to detect chromosomal inversions is important to a number of medical applications, such as cancer and birth defects, as examples. Reporter species are attached to oligonucleotide strands designed such that they may hybridize to portions of only one of a pair of single-stranded sister chromatids prepared by the CO-FISH procedure, as an example. If an inversion has occurred, these marker probes will be detected on the sister chromatid at the same location as the inversion on the first chromatid.