β-珠蛋白生成障碍性贫血患者血红蛋白F表达与BCL11A基因rs11886868位点单核苷酸多态性的关系  

Correlation Between Hemoglobin F Levels and Single Nucleotide Polymo-rphism at BCL11AGene rs11886868 Locus in β-thalassemia Patients

作　　者：陈群蓉[1] 孙顺昌[2] 彭运生[2] 王清[2] 莫宝妹[2] 

机构地区：[1]深圳市宝安区人民医院输血科,广东深圳518101 [2]深圳市宝安区人民医院检验科,广东深圳518101

出　　处：《中国实验血液学杂志》2012年第3期650-653,共4页Journal of Experimental Hematology

基　　金：深圳市科技计划项目;编号201002149

摘　　要：本研究通过分析β-珠蛋白生成障碍性贫血患者的血红蛋白F(HbF)表达及BCL11A基因rs11886868位点的单核苷酸多态性,探讨二者之间的关系。选取89例已知基因突变类型的轻型β-珠蛋白生成障碍性贫血患者,通过毛细管电泳分析患者的红细胞HbF含量;提取患者基因组DNA,通过聚合酶链反应扩增含rs11886868位点的BCL11A基因片段,用DNA测序法确定rs11886868位点的单核苷酸多态性。结果显示,在89例深圳地区β-珠蛋白生成障碍性贫血患者的BCL11A基因rs11886868位点中发现C和T两种单核苷酸多态性;携带C/C单倍型患者的红细胞HbF含量为(4.47±3.42)%,高于携带C/T单倍型患者的(2.79±2.21)%。结论:β-珠蛋白生成障碍性贫血患者BCL11A基因rs11886868位点存在C和T两种单核苷酸多态性,其中C多态性可能与红细胞内HbF高表达存在相关性。This study was aimed to analyze hemoglobin F（HbF） level and single nucleotide polymorphisms at rs11886868 locus of BCL11A gene in β-thalassemia patients,and to explore correlation between them.89 mild β-thalassemia patients with known mutations were registered,and HbF levels were determined by capillary electrophoresis.Genomic DNA was extracted from peripheral leukocytes,fragment including rs11886868 locus in BCL11A gene was amplified by PCR,and polymorphism was determined by DNA sequencing.The results showed that 2 polymorphisms including C and T were found at rs11886868 locus in BCL11A gene among 89 mild β-thalassemia patients.HbF levels in red blood cells were（4.47±3.42）% and（2.79±2.21）% for β-thalassemia patients carrying C/C and C/T haplotypes,respectively.There was difference between 2 haplotype groups.It is concluded that the C and T polymorphisms are found at rs11886868 locus in the BCL11A gene for β-thalassemia patients.C polymorphism may be related to high HbF expression in red blood cells.

关 键 词：Β-珠蛋白生成障碍性贫血 BCL11A基因 单核苷酸多态性 HBF rs11886868位点 

分 类 号：R556.61[医药卫生—血液循环系统疾病]