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PML/RARα融合基因检测临床应用及变异易位的研究

Clinical Application of PML-RAR α Fusion Gene Detection and Study of Variant Translocation
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摘要 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 Objective To improve the methods in detecting PML RAR α fusion gene,to study variant translocation and observe it's clinical sences.Methods PML RAR α fusion gene in bone marrow or blood was detected by RT PCR,the variant product about 200 bp was sequeeced.Results PML RAR α fusion gene of 8 onsetting APL patients were all positive (4 first occurrence, 4 reoccurence);6 of 20 were positive in APL remission phase,in which proportion ratio of promyelocyte in bone marrow smear were all below 5% ; a new type S variant translocation was discovered;type S and type L in one body was discovered.The PML RAR α fusion gene positive rate in bone marrow is higher than that in blood.Conclusions A new variant translocation was discovered and it showed that type S and type L in one body .It is best program that the monocyte taken from bone marrow to detect PML RAR α fusion gene by RT PCR.
出处 《肿瘤防治杂志》 2002年第1期15-18,共4页 China Journal of Cancer Prevention and Treatment
基金 浙江省医药卫生优秀青年科技人才专项基金资助 ( 99Q18)
关键词 PML-RARΑ融合基因 APL RT-PCR 骨髓 变异易位 白血病 PML RAR α fusion gene APL RT PCR bone marrow variant traslocation
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