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目的 :优化PML RARα融合基因检测方法 ,观察变异易位及其临床意义。方法 :RT PCR查骨髓及部分外周血PML RARα融合基因 ,变异易位产物作测序分析。结果 :发病期的 8例APL患者 (初发 4例、复发 4例 )PML RARα融合基因均阳性 ;缓解期APL患者的 2 0人次检查中 6人次阳性 ,而其骨髓涂片早幼粒细胞比率均小于 5 % ;发现一种新的S型变异易位 ,并见L、S型同时存在于同一个体。外周血中的阳性率低于骨髓中。结论 :证实S型 2 0 6bp的变异产物是一种新的变异易位产物 ;同一个体L、S型可同时存在 ;提取骨髓单个核细胞用于RT PCR查PML RARα融合基因效果最佳
OBJECTIVE: To optimize the detection of PML RARα fusion gene and to observe the variation of translocation and its clinical significance. Methods: The PML RARα fusion gene in bone marrow and some peripheral blood was detected by RT PCR, and the translocation products were sequenced. Results: The PML RARα fusion gene was positive in 8 cases of APL patients (4 cases of initial and 4 cases of recurrent) in the onset stage, 6 cases of APL patients were positive in 20 cases during the remission stage, and the bone marrow smear promyelocytic rate All less than 5%. A new S-type variant translocation was found, and the L and S types also existed in the same individual. The positive rate in peripheral blood is lower than that in bone marrow. Conclusion: It is confirmed that the mutation product of S-type 206bp is a new variant translocation product; the same individual type L and S may exist at the same time; and bone marrow mononuclear cells can be extracted for RT PCR to detect PML RARα fusion gene