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目的 逆转录聚合酶链反应 (RT PCR)检测早幼粒细胞白血病 /维甲酸受体α(PML/RARα)融合基因 ,筛查变异易位并对变异易位产物测序 ,以进一步了解变异易位的特点及临床意义。方法 取急性早幼粒细胞白血病 (APL)患者骨髓 ,RT PCR检测L亚型和S亚型 ,发现的变异易位经全自动测序仪测定其碱基序列。结果 1 1例PML/RARα融合基因表达的患者中 ,S亚型 1例、L亚型8例、变异S亚型合并L亚型 2例 ;变异S亚型产物测序得到 2 0 6bp的碱基序列 ,检索证实是一种新的变异易位。结论 发现了一种新的S亚型变异易位 ,证实同一个体可有S和L二种不同亚型并存 ;提示PML/RARα融合基因的RT PCR检测中 ,识别变异易位有重要意义
Objective To detect the fusion gene of promyelocytic leukemia / retinoic acid receptor alpha (PML / RARα) by reverse transcriptase-polymerase chain reaction (RT PCR), screen the translocations and sequence the translocations to further understand the variation translocations The characteristics and clinical significance. Methods The bone marrow of patients with acute promyelocytic leukemia (APL) was obtained. The L and S subtypes were detected by RT-PCR. The translocations were detected by automatic sequencing. Results Among the 11 patients with PML / RARα fusion gene expression, there were 1 case of S subtype, 8 cases of L subtype, 2 cases of variant S subtype with L subtype and 2 0 6 bp subgroup of variant S subtype Sequence, search proved to be a new variant translocation. Conclusion A new translocation of S subtypes has been found, which confirms that two subtypes of S and L co-exist in the same individual. It is suggested that it is important to identify the translocation of translocation in RT PCR detection of PML / RARα fusion gene