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  • Title: Molecular analysis of acute promyelocytic leukemia breakpoint cluster region on chromosome 17.
    Author: Borrow J, Goddard AD, Sheer D, Solomon E.
    Journal: Science; 1990 Sep 28; 249(4976):1577-80. PubMed ID: 2218500.
    Abstract:
    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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