粒-巨噬细胞集落刺激因子在肺泡蛋白沉积症患者中的表达  

Expression of GM-CSF in patients with pulmonary alveolar proteinosis

作　　者：王选锭[1] 罗发满[1] 刘富光[1] Burkhard Bewig 

机构地区：[1]浙江大学医学院附属二院呼吸科,杭州310009 [2]德国基尔大学附属医院内科

出　　处：《中华结核和呼吸杂志》2001年第7期417-429,共13页Chinese Journal of Tuberculosis and Respiratory Diseases

摘　　要：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GMObjective To investigate the expression of granulocyte macrophage colony stimulating factor (GM CSF) protein and mRNA in four patients with pulmonary alveolar proteinosis (PAP). Methods GM CSF levels were measured with a commercial ELISA kit RT PCR was employed to detect the expression of the GM CSF mRNA in peripheral blood mononuclear cells (PBMC) and alveolar macrophages To discover the possible mutations, the entire coding region of the GM CSF cDNA was sequenced by the Sanger dideoxy mediated chain termination method. Results All patients,except for the one with secondary PAP showed no release of GM CSF either from PBMC or from alveolar macrophages The expression of the GM CSF mRNA was normal in all patients, whereas a point mutation at position 382 of the GM CSF cDNA from 'T' to 'C' was revealed by cDNA sequencing in one idiopathic PAP patient, which caused a change from isoleucine to threonine in amino acid 117 of the protein. Conclusions Decreased GM CSF production is associated with the pathogenesis of idiopathic PAP A point mutation of the GM CSF cDNA may partly contribute to the decreased GM CSF production

关 键 词：肺泡蛋白沉积症 粒-巨噬细胞集落刺激因子 基因表达 基因突变 

分 类 号：R563.9[医药卫生—呼吸系统]