title: Molecular analysis of acute promyelocytic leukemia breakpoint cluster region on chromosome 17.
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).
authors.affiliation: Solomon, Somatic Cell Genetics Laboratory, Imperial Cancer Research Fund, London, United Kingdom.
authors.forename: J
authors.initials: J
authors.lastname: Borrow
authors.forename: A D
authors.initials: AD
authors.lastname: Goddard
authors.forename: D
authors.initials: D
authors.lastname: Sheer
authors.forename: E
authors.initials: E
authors.lastname: Solomon
mesh_terms: D015139:Blotting, Southern; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D002886:Chromosomes, Human, Pair 17; D004273:DNA, Neoplasm / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D008040:Genetic Linkage; D006801:Humans; D015473:Leukemia, Promyelocytic, Acute / Q000097:blood / Q000235:genetics*; D015183:Restriction Mapping; D014178:Translocation, Genetic
chemical_list: D004273:DNA, Neoplasm