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Science 28 September 1990:
Vol. 249. no. 4976, pp. 1577 - 1580
DOI: 10.1126/science.2218500

Articles

Science, Vol 249, Issue 4976, 1577-1580
Copyright © 1990 by American Association for the Advancement of Science


articles

Molecular analysis of acute promyelocytic leukemia breakpoint cluster region on chromosome 17

J Borrow, AD Goddard, D Sheer, and E Solomon

Solomon, Somatic Cell Genetics Laboratory, Imperial Cancer Research Fund, London, United Kingdom.

Acute promyelocytic leukemia (APL; FAB M3) is characterized by a predominance of malignant promyelocytes that carry a reciprocal translocation between the long arms of chromosomes 15 and 17, t(15;17) (q22;q11.2-q12). This translocation has become diagnostic for APL, as it is present in almost 100 percent of cases. A Not I linking clone was used to detect this translocation initially on pulsed-field gel electrophoresis and subsequently with conventional Southern (DNA) analysis. The breakpoints in ten APL cases examined were shown to cluster in a 12-kb region of chromosome 17, containing two CpG-rich islands. The region is the first intron of the retinoic acid receptor alpha gene (RARA).


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