Physiological role and clinical significance of platelet apoptotis

我们检测了血小板凋亡调节基因巴克和Bcl-XL在血小板减少症或血小板增多症患者中是否有突变。对骨髓增生异常综合征（MDS）患者的这些基因进行直接测序，发现Bcl-XL基因有5个点突变。将每个突变基因转染到人细胞系中不诱导细胞凋亡，表明这些突变与血小板减少症的发病机制无关。我们还测定了原发性血小板增多症（ET）患者巴克和Bcl-XL基因的序列。然而，没有患者在这些基因中发生突变。这些结果表明，巴克和Bcl-XL突变是不负责的血小板减少症或血小板增多的血液恶性肿瘤，包括MDS和ET。

We examined if the Bak and Bcl-XL genes that are regulators for platelet apoptosis have mutations in patients with thrombocytopenia or thrombocytosis. The direct sequencing of these genes in patients with myelodysplastic syndrome (MDS) found 5 point mutations in the Bcl-XL gene. Transfection of each mutant gene into human cell lines did not induce cell apoptosis, suggesting no involvement of these mutations in the pathogenesis of thrombocytopenia. We also determined the sequences of Bak and Bcl-XL genes in patients with essential thrombocythemia (ET). However, no patient had mutations in these genes. These results suggest that the Bak and Bcl-XL mutations are not responsible for thrombocytopenia or thrombocytosis in hematological malignancies including MDS and ET.