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目的 研究粒 巨噬细胞集落刺激因子 (GM CSF)蛋白及mRNA在 4例肺泡蛋白沉积症(PAP)患者中的表达 ,探索PAP的发病机制。方法 采用ELISA法测定GM CSF蛋白 ,采用RT PCR检测外周血单个核细胞及肺泡巨噬细胞中GM CSFmRNA表达水平。GM CSFcDNA测序采用双脱氧链终止反应法。结果 4例PAP中 3例外周血单个核细胞和肺泡巨噬细胞均检测不到GM CSF释放 ,但mRNA表达水平均正常。cDNA测序发现 1例PAP患者GM CSFcDNA第 3 82位碱基发生点突变 (T→C) ,致 117位氨基酸序列发生改变 (异亮氨酸→苏氨酸 )。结论 GM CSF蛋白表达异常与PAP发病可能有关 ,GM CSFcDNA点突变可能是导致GM CSF蛋白表达异常的原因之一
Objective To study the expression of granulocyte-macrophage colony stimulating factor (GM CSF) protein and mRNA in 4 patients with pulmonary alveolar proteinosis (PAP) and explore the pathogenesis of PAP. Methods GM CSF protein was determined by ELISA. The expression of GM CSF mRNA in peripheral blood mononuclear cells and alveolar macrophages was detected by RT-PCR. GM CSF cDNA sequencing using dideoxy chain termination reaction. Results No GM CSF release was detected in 3 peripheral blood mononuclear cells and alveolar macrophages in 4 PAP cases, but the mRNA expression levels were normal. cDNA sequencing found point mutation (T → C) at codon 82 of GM CSF cDNA in one patient with PAP, leading to a change of 117 amino acid sequence (isoleucine → threonine). Conclusion The abnormal expression of GM CSF may be related to the pathogenesis of PAP. Point mutation of GM CSF cDNA may be one of the reasons leading to the abnormal expression of GM CSF protein