PT - JOURNAL ARTICLE AU - Borrow, J AU - Goddard, AD AU - Sheer, D AU - Solomon, E TI - Molecular analysis of acute promyelocytic leukemia breakpoint cluster region on chromosome 17 AID - 10.1126/science.2218500 DP - 1990 Sep 28 TA - Science PG - 1577--1580 VI - 249 IP - 4976 4099 - http://science.sciencemag.org/content/249/4976/1577.short 4100 - http://science.sciencemag.org/content/249/4976/1577.full SO - Science1990 Sep 28; 249 AB - 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).