Daniel Pinkel

TL;DR: The use of fluorescence in situ hybridization for chromosome classification and detection of chromosome aberrations is described and chromosomes in human-hamster hybrid cell lines were intensely and uniformly stained in metaphase spreads and interphase nuclei when human genomic DNA was used as a probe.

TL;DR: Chromosomes can be specifically stained in metaphase spreads and interphase nuclei by in situ hybridization with entire chromosome-specific DNA libraries to inhibit the hybridization of sequences in the library that bind to multiple chromosomes.

TL;DR: An analysis of the utility of fluorescence in situ hybridization with whole-chromosome probes for measurement of the genomic frequency of translocations found in the peripheral blood of individuals exposed to ionizing radiation shows that translocation frequency dose response curves estimated using FISH are similar for Hiroshima A-bomb survivors and for first division lymphocytes irradiated in vitro.

TL;DR: Two-color fluorescence in situ hybridization was used with probes from portions of the bcr and abl genes to detect the bCr-abl fusion in individual blood and bone marrow cells from six patients, and the fusion event was detected in all samples analyzed.

TL;DR: In this article, the authors presented methods of determining relative copy number of target nucleic acids and precise mapping of chromosomal abnormalities associated with disease. The methods of the invention use target nuclei acids immobilized on a solid surface, to which a sample comprising two sets of differentially labeled nucleic acid are hybridized.