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Science 26 October 1990:
Vol. 250. no. 4980, pp. 559 - 562
DOI: 10.1126/science.2237408
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Articles

Science, Vol 250, Issue 4980, 559-562
Copyright © 1990 by American Association for the Advancement of Science

articles

Detection of bcr-abl fusion in chronic myelogeneous leukemia by in situ hybridization

DC Tkachuk, CA Westbrook, M Andreeff, TA Donlon, ML Cleary, K Suryanarayan, M Homge, A Redner, J Gray, and D Pinkel

Lawrence-Livermore National Laboratory, Biomedical and Environmental Sciences Division, CA 94550.

Chronic myelogeneous leukemia (CML) is genetically characterized by fusion of the bcr and abl genes on chromosomes 22 and 9, respectively. In most cases, the fusion involves a reciprocal translocation t(9;22)(q34;q11), which produces the cytogenetically distinctive Philadelphia chromosome (Ph1). Fusion can be detected by Southern (DNA) analysis or by in vitro amplification of the messenger RNA from the fusion gene with polymerase chain reaction (PCR). These techniques are sensitive but cannot be applied to single cells. Two-color fluorescence in situ hybridization (FISH) 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. The fusion event was detected in all samples analyzed, of which three were cytogenetically Ph1-negative. One of the Ph1-negative samples was also PCR-negative. This approach is fast and sensitive, and provides potential for determining the frequency of the abnormality in different cell lineages.


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