Detection of Chromosomal Inversions

摘要

A method and a kit for the identification of chromosomal inversions are 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.

主权项

1. A kit for detecting inversions in a selected mitotic chromosome, comprising a plurality of non-repetitive probes, wherein each of the probes in the plurality of probes is single-stranded, unique and identical to at least a portion of a target DNA sequence of a chromatid of the chromosome, each of the probes having at least one label, thereby permitting detection thereof.