一种新的早幼粒细胞白血病/维甲酸受体α融合基因S亚型变异易位

A new variant translocation of subtype S of promyelocytic leukemia/retinoic acid receptor alpha fusion gene

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 。

Objectives To screen and sequence the variant translocation of promyelocytic leukemia/retinoic acid receptor alpha fusion gene and to study on the molecular causes and the clinical senses of the variant translocation Methods Subtype L and S of bone marrow from acute promyelocytic leukemia patients were detected by reverse transcriptase polymerase chain reaction, the variant translocation genes were sequenced Results 11 patients of acute promyelocytic leukemia for promyelocytic leukemia/retinoic acid receptor alpha fusion gene were positive (1 subtype S, 8 subtype L, 2 variant subtype S with subtype L); the sequence of variant subtype S was 206 bp, which was testified to be a new variant translocation Conclusions A new variant translocation of subtype S of 206 bp was found; subtype S and L in one body was testified; it is important to find variant subtype in monitored promyelocytic leukemia/retinoic acid receptor alpha fusion gene by reverse transcriptase polymerase chain reaction