Borrow J, Goddard A D, Sheer D, Solomon E
Solomon, Somatic Cell Genetics Laboratory, Imperial Cancer Research Fund, London, United Kingdom.
Science. 1990 Sep 28;249(4976):1577-80. doi: 10.1126/science.2218500.
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).
急性早幼粒细胞白血病（APL；FAB M3）的特征是恶性早幼粒细胞占优势，这些细胞携带15号和17号染色体长臂之间的相互易位，即t(15;17)(q22;q11.2-q12)。这种易位已成为APL的诊断依据，因为几乎100%的病例中都存在该易位。最初使用Not I连接克隆在脉冲场凝胶电泳上检测这种易位，随后用传统的Southern（DNA）分析进行检测。在所检测的10例APL病例中，断点聚集在17号染色体的一个12kb区域，该区域包含两个富含CpG的岛。该区域是维甲酸受体α基因（RARA）的第一个内含子。
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