骨髓增生异常综合征中FANCF蛋白及甲基化研究  

Study on the FANCF Protein Expression and Methylation in Myelodysplastic Syndrome

作　　者：娄晔[1,2] 于艺冰[1,3] 詹立辉[1,4] 邓娜[1,5] 李巍巍 樊华[1] 

机构地区：[1]中国医科大学附属第一医院血液科,沈阳110001 [2]大庆市油田总医院血液科,黑龙江大庆163001 [3]秦皇岛市第一医院血液科,河北秦皇岛066000 [4]大庆市人民医院眼科,黑龙江大庆163001 [5]中国医科大学附属第四医院血液科,沈阳110032

出　　处：《中国医科大学学报》2013年第7期595-598,652,共5页Journal of China Medical University

基　　金：国家自然科学基金(30670887)

摘　　要：目的研究骨髓增生异常综合征(MDS)中FANCF基因甲基化状态及其蛋白表达,探讨FANCF基因甲基化及蛋白表达与MDS发病的相关性。方法以MDS患者骨髓提取的单个核细胞为研究对象,采用免疫组织化学染色法、Western blot检测FANCF蛋白表达、甲基化特异聚合酶链反应(MSP)检测FANCF基因的甲基化状态。结果 FANCF蛋白在MDS-RA组低表达,MDS-RAEB/T组更低表达,对照组正常表达;MDS组与对照组比较表达明显减低,差异有统计学意义(P<0.05)。MDS组有明显甲基化,与对照组比较差异有统计学意义(P<0.05)。结论 FANCF蛋白在MDS组中表达下调,FA通路不能形成,可能与MDS发病有相关性。FANCF基因在MDS患者中呈现高甲基化状态,提示FANCF基因的高甲基化状态可能在MDS的疾病发生过程中起到一定的作用;MDS-RAEB/T组甲基化状态高于MDS-RA组,提示FANCF基因的甲基化可能与MDS的预后相关。Objective To investigate the methylation status of FANCF gene and the expression of FANCF protein in myelodysplastic syndrome （MDS）. Methods Mono-nucleus cells were isolated from bone marrow of MDS. Expression of FANCF protein was detected by immunohistochemistry method and Western blot. Methylation special PCR was used to detect the methylation status of FANCF＇ CpG island. Results The FANCF protein is low expressed in MDS-RA group and MDS-RAEB/T group （significantly lower）,but normal in negative controls. The expressions of MDS are lower than negative controls with a statistical significance （P 〈 0.05）. Methylation status of FANCF gene were significantly higher in MDS group than in negative controls （P 〈 0.05 ）. Conclusion The FANCF protein is lower expressed in both high-danger and low-danger MDS,which subsequent disrupt the FA pathway. That may be correlated with the prognosis of MDS. Methylation of FANCF is obviously higher in MDS group than negative control, suggesting it may play a role in the pathogenesis of MDS. Methylation of FANCF is significantly higher in MDS-RAEB/T group than MDS-RA group,indicating it may be associated with prognosis of MDS.

关 键 词：范可尼贫血 FANCF 骨髓增生异常综合征 免疫组织化学染色 Western BLOT 甲基化特异聚合酶链反应 

分 类 号：R445.2[医药卫生—影像医学与核医学]