Tashiro S, Tanaka K, Asou H, Kyo T, Dohy H, Suzuki K, Kamada N
Department of Hematology, Hiroshima University.
Jpn J Cancer Res. 1993 Feb;84(2):110-3. doi: 10.1111/j.1349-7006.1993.tb02841.x.
Breakpoints of the 15;17 translocation in patients with acute promyelocytic leukemia (APL) have been identified within PML and retinoic acid receptor a (RARA) genes in chromosomes 15 and 17, respectively. A wide heterogeneity was observed in the breakpoints on the PML and RARA genes. Therefore, amplification of the breakpoints region by polymerase chain reaction (PCR) with genomic DNA has been considered to be difficult. In the present study, a method was developed to detect the 15;17 translocation with genomic DNA. Of 13 patients with APL, four were detected to have the rearrangement of genomic DNA. At present, reverse transcriptase-polymerase chain reaction analysis is one of the methods available for diagnosis and detection of the residual leukemic cells in APL. In this study, PCR analysis using genomic DNA of APL cells is proved to be useful for identifying the breakpoints of the PML and the RARA genes. Furthermore, this method is applicable to patients for whom RNA samples of the leukemic cells are not available.
急性早幼粒细胞白血病（APL）患者15号与17号染色体易位的断点已分别在15号染色体上的早幼粒细胞白血病（PML）基因和17号染色体上的维甲酸受体α（RARA）基因中被确定。在PML和RARA基因的断点处观察到广泛的异质性。因此，用基因组DNA通过聚合酶链反应（PCR）扩增断点区域被认为是困难的。在本研究中，开发了一种用基因组DNA检测15；17易位的方法。在13例APL患者中，有4例被检测到基因组DNA发生重排。目前，逆转录聚合酶链反应分析是可用于APL诊断和检测残留白血病细胞的方法之一。在本研究中，使用APL细胞基因组DNA进行PCR分析被证明对鉴定PML和RARA基因的断点有用。此外，该方法适用于无法获得白血病细胞RNA样本的患者。
