重型β地中海贫血患者BCL11A表达水平及其与临床表现的相关性分析  

Expression of BCL11A in Patients with Beta Thalassemia Major and Its Correlation with Clinic Manifestation

作　　者：尹晓林[1] 林万华[2] 方素萍[3] 陈希玲[1] 张天郎[1] 罗瑞贵[1] 李静[1] 吴志奎[3] 张新华[1] 

机构地区：[1]解放军303医院血液科,广西南宁530021 [2]广西师范大学生命科学院 [3]中国中医科学院广安门医院分子生物学研究室

出　　处：《华南国防医学杂志》2012年第3期219-222,共4页Military Medical Journal of South China

基　　金：国家973计划项目(2010CB530406);广西自然科学基金项目(2011GXNSFA018196)

摘　　要：目的探讨重型β地中海贫血患者(thalassemia major,TM)BCL11A表达特点及其与临床表现的关系。方法正常人和TM患者各24例,分离外周血单个核细胞,实时荧光定量聚合酶链反应(quantitative real time polymer-ase chain reaction,qRT-PCR)法检测BCL11A、γ基因mRNA表达水平,同时检测血常规血红蛋白(hemoglobin,Hb)、血红蛋白分析仪检测胎儿血红蛋白(fetal hemoglobin,HbF),并行相关性检验。结果 TM患者的HbF、γmRNA水平显著高于正常人群(13.7%±13.6%vs 0.28%±0.15%,P<0.001;2479%±279%vs 10.61%±0.41%,P<0.001),2组BCL11A基因mRNA水平无统计学差异(0.73%±0.26%vs 0.77%±0.22%,P=0.590)。TM患者中25%(6例)的患者HbF正常,与HbF升高者比较,其γmRNA水平要低(62.10%±16.49%vs 3285.2%±2792.2%,P<0.001),但BCL11A mRNA水平无统计学差异(0.78%±0.21%vs 0.72%±0.28%,P=0.704)。TM患者BCL11A mRNA水平与首次输血年龄无显著相关(r=0.201,P=0.345)。结论 BCL11A不参与TM患者的γ基因的开放和HbF代偿性增加。Objective To investigate the expression of BCL11A in patients with thalassemia major（TM） and its correlation with clinic manifestation.Methods Peripheral blood mononuclear cells were separated from 24 TM patients and 24 normal persons.BCL11A and γ mRNA expression was determined by quantitative real time polymerase chain reaction（qRT-PCR）.Hemoglobin level and HbF percentage were detected by blood routine analysis and hemoglobin analysis.Results Compared with normal control,HbF level and γ mRNA level in TM patients were increased significantly（HbF：13.7%±13.6% vs 0.28%±0.15%,P0.001,γ mRNA：2479%±279% vs 10.61%±0.41%,P0.001）.BCL11A mRNA level was not significantly different between two groups（0.73%±0.26% vs 0.77%±0.22%,P=0.590）.Six TM patients（25%） had normal HbF levels.Compared with patients having increased HbF levels,patients with normal HbF levels had lower γ mRNA levels（62.10%±16.49% vs 3285.2%±2792.2%,P0.001）,and similar BCL11A mRNA levels（0.78%±0.21% vs 0.72%±0.28%,P=0.704）.BCL11A mRNA did not correlate with the ages of first blood transfusion（r=0.201,P=0.345）.Conclusion BCL11A does not take part in γ gene upregulation and the compensatory increasing of HbF in TM patients.

关 键 词：重型Β地中海贫血 BCL11A基因 Γ基因 HBF 

分 类 号：R556.7[医药卫生—血液循环系统疾病]