维甲酸受体α基因在急性早幼粒细胞白血病中的重排和扩增

The Rerrangement and Amplification of RAR α Gene in Cells from Acute Promyelocytic Leukemia Patients

以维甲酸受体（RARα）基因的全长CDNA片断为探针，检测了3例急性早幼粒细胞白血病（APL）患者骨髓或外周血细胞中RARα基因的结构．结果发现1例有RARα基因的重排，另1例带型与胚原型一致，但在RARα基因的某区域有基因高度扩增的异常现象．提示扩增也可能是导致APL的分子机理之一．

By using a full-length cDNA of the human retinoic acid receptor 2 (RARα) gene as a probe, the bone marrow or peripheral blood cells from three patients with acute promyelocytic leukemia (APL) were studied for the molecular alterations occurred in RARα gene. Our results showed that in addition to the RARαgene rearrangement in one patient, a very strong signal indicating highly amplified RARα gene copy was detected in another, suggesting that the amplification other than rearrangement of RARα gene can also be a possible molecular mechanism resulting in APL.