重症肌无力T细胞受体基因重排的初步研究

Analysis of T Cell Receptor Gene Rearrangements in Myasthenia Gravis Patients

用Southern杂交方法检测了一组重症肌无力患者T细胞受体基因重排情况，结果示4例患者存在一条约9kb左右的异常条带，提示T细胞受体基因异常重排可能与重症肌无力发生及胸腺瘤相关。

Multiple genes contribute to the induction of pathogenic autoimmunity, such as genes of immunoglobulin, T cell receptor (TCR), alltoantigen, cytokines, apoptosis and so on. In order to study whether TCR gene rearrangements are related to MG and thymoma,we have investigated TCR gene rearrangement of peripheral blood lymphocytes from patients with MG. Methods Total DNA of lymphocytes was analyzed by sollthern blot experiments using probes specific for TCR-α gene. Results Seven germline fragments could be demonstrated in DNAs from both normal donors and MG patients. A rearranged band was detected in four patients out of 24 patients. The band was about 9 kb in size and was different from the ones which other authors found in TCR-βand-γ regions. It is still necessary to test whether it is the pathogenic gene of MG or a polymorphism. Two of the four cases had been confirmed to have thymoma, one was benign, the other malignant. Conclusion The data indicated that specific TCR gene rearrangement may be related to MG and thymoma. TCR gene rearrangement determination might be helpful to the early diagnosis of the thymoma.