急性白血病原代细胞TGF-βⅡ型受体同种型的发现及其临床意义

转化生长因子C（TGF-β）及其受体的基因突变已被证实在肿瘤形成中具有重要的作用，在许多肿瘤中都发现有TGF-βⅡ型受体（TβR-Ⅱ）表达异常或表达缺失。为了了解急性白血病患者TβR-Ⅱ基因是否存在异常，本研究应用大范围RT-PCR的方法分段扩增急性白血病原代细胞TβR-Ⅱ的编码序列，并结合序列测定技术，分别对6例急性白血病患者以及11例正常人TβR-Ⅱ的编码序列进行突变检测。全部患者经骨髓细胞形态检查符合FAβ诊断标准且骨髓原始细胞≥90％。肝素抗凝骨髓4－5ml，分离单个核细胞，用TRIZOL试剂提取总RNA，反转录后行PCR扩增，琼脂糖凝胶电泳分析PCR产物。回收目的片段，克隆到PGEM-T载体，进行序列的测定。结果显示：在检测的病人中有2例病人中存在TβR-Ⅱ的同种型，而此2例病人临床预后不良。结论：部分白血病病人存在TβR-Ⅱ的同种型，而且该同种型可能与预后有关。

Identification of the Isoform in Type Ⅱ Receptor of Transforming Growth Factor-beta in Patients with Acute Leukemia and Its Clinical Significance

Recent research indicates that TGF-beta and type II receptor (TbetaR-II) play an important role in the pathogenesis of tumor. A high frequency of abnormalities in TbetaR-II has been demonstrated in various cancers. To identify the mutation of TbetaR-II in patients with acute leukemia, the bone marrow samples from 6 patients with acute leukemia and 11 normal individuals as control were detected by long-range RT-PCR. To detect a deletion in sequence of the TbetaR-IIgene, the PCR products were cloned to T vector and then sequenced. The results showed that there was existance of the isoform of TbetaR-II in 2 cases out of 6 patients with acute leukemia. These two patients had more poor prognosis than others. In conclusion, there was the isoform of TbetaR-II in partial patients with acute leukemia, and the isoform may be related with prognosis.