Analysis of Primary Immunodeficiency Syndromes using model mice.

我们试图建立严重先天性中性粒细胞减少症（SCN）模型小鼠。采用pcr诱变方法制备野生型（WT）、P110L、R101Q和C194X ELA2，并将其导入逆转录病毒Tet-on基因表达载体。我们利用HEK293细胞进行基因表达实验。虽然观察到ELA2的表达，但我们无法对其进行分析，因为引入ELA2的细胞会导致细胞死亡。目前，我们正试图通过控制强力霉素的浓度来控制ELA2的表达水平。之后，我们计划利用人脐带血中CD34阳性细胞进行骨髓重组，生成SCN模型小鼠。

We tried to generate Severe Congenital Neutropenia (SCN) model mouse. We produced wild-type (WT), P110L, R101Q and C194X ELA2 by PCR-based mutagenesis and introduced them into retrovirus Tet-on gene expression vector. We performed gene expression experiment by using HEK293 cells. Although ELA2 expression was observed, we could not analyze them because the ELA2 introduced cells result in cell death. Now, we are trying to control ELA2 expression level by control the concentration of doxycycline. After that, we are planning generate SCN model mouse by BM reconstitution using CD34 positive cells from human cord blood.