Duplication of small segments within the major breakpoint cluster region in chronic myelogenous leukemia.
作者： CE Litz , JS McClure , CM Copenhaver , RD Brunning
DOI: 10.1182/BLOOD.V81.6.1567.1567
关键词:
摘要: The t(9;22) in chronic myelogenous leukemia (CML) may be reciprocal or, a minority of cases, result an extensive deletion portion the major breakpoint cluster region (M-bcr) BCR. This report provides evidence duplication small segments within M-bcr group patients with CML. Southern blots Bgl II and II/BamHI double-digested DNA from blood or bone marrow 46 CML were probed 5' 1.4-kb Taq I/HindIII M- bcr probe 3' 2-kb HindIII/BamHI probe. In three patients, rearrangements noted both probes II-digested DNA, but not present II/BamHI-digested either analysis samples BspHI two these cases showed no probe; site is located 26 bp BamHI second intron M-bcr. presence rearranged lack rearrangement II/BspHI suggest sites on 9q+ chromosome (9q+) Philadelphia (Ph). implies at least 26-bp BamHI/BspHI fragment samples. Sequence data one confirmed breakpoints to staggered; Ph occurred 258 downstream breakpoint. It concluded that occurs CML, which lead pseudogermline patterns blot. Such provide insight into mechanism some chromosomal translocations neoplasia.
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