中国医科大学学报

中国医科大学学报

中国医科大学学报 ›› 2013, Vol. 42 ›› Issue (7): 595–598.

• 论著 • 上一篇    下一篇

骨髓增生异常综合征中FANCF蛋白及甲基化研究

娄晔1,2,于艺冰1,3,詹立辉1,4,邓娜1,5,李巍巍2,樊华1   

  1. 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110001
  • 收稿日期:2013-02-26 出版日期:2013-07-18 发布日期:2013-11-26
  • 作者简介:娄晔(1975-),女,副主任医师,硕士研究生.
  • 基金资助:
    国家自然科学基金(30670887)

Study on the FANCF Protein Expression and Methylation in Myelodysplastic Syndrome

LOU Ye1,2,YU Yi-bing1,3sup,ZHAN Li-hui1,4,DENG Na1,5,LI Wei-wei2,FAN Hua1   

  1. 1. Department of Hematology,The First Hospital,China Medical University,Shenyang 110001,China;
    2.Department of Hematology, Daqing Oil Field General Hospital,Daqing 163000,China;
    3. Department of Hematology, The First Hospital of Qinhuangdao,Qinhuangdao 06600,China;
    4.Department of Ophthalmology, Daqing Peoples Hospital, Daqing 163316 ,China;
    5, Department of Hematology,The Fouth Affiliated Hospital ,China Medical University, Shenyang 110001,China
  • Received:2013-02-26 Online:2013-07-18 Published:2013-11-26

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印迹法检测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。

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, Westernblot, 甲基化特异聚合酶链反应

Abstract: ObjectiveTo investigate the methylation status of FANCF gene and the expression of FANCF protein in myelodysplastic syndrome (MDS).MethodsMono-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#x02019; CpG island.ResultsThe 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 ).ConclusionThe 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.

Key words: fanconi anemia, fanconi anemia, FANCF, myelodysplastic syndromes, immunohis tochemistry method, Western blot, methylation specific polymerase chain reaction, methylation specific polymerase chain reaction

中图分类号: 

  • R445.2
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