中国人群β-珠蛋白基因增强子区多态性分析  

Polymorphisms in the Enhancer Region of the β-globin Gene in a Chinese Population

作　　者：邹德学[1] 陈卫东[1] 陈伟忠[1] 

机构地区：[1]北京大学深圳医院检验科,广东深圳518101

出　　处：《现代检验医学杂志》2009年第3期38-40,共3页Journal of Modern Laboratory Medicine

基　　金：深圳市科技计划项目（200703169）.

摘　　要：目的对中国人群β-珠蛋白基因3’端增强子区序列进行分析，探讨β-珠蛋白基因增强子区的核苷酸多态性。方法采集100名正常中国人外周血并抽提基因组DNA，通过聚合酶链反应扩增β-珠蛋白基因3’端增强子区，经DNA测序确定增强子区序列的变异。结果在中国人群中，β-珠蛋白基因3’端增强子区共存在五个单核苷酸变异位点，它们分别是101G／C，182G／A，184C／A，221G／A，340A／T。其中101G／C，182G／A，184C／A和340A／T位点的单核苷酸在人群中出现的频率均大于1％。结论在β-珠蛋白基因3’端增强子区的五个单核苷酸变异位点中，101G／C，182G／A，184C／A和340A／T为单核苷酸多态性，221G／A可能为突变。Objective To analysis the enhancer region sequence of the β-globin gene,and to investigate nucleotide polymorphisms in the enhancer region in the Chinese population. Methods Genomic DNA was extracted from peripheral leukocytes in 100 normal individuals in Chinese. The enhancer region sequence was amplified by polymerase chain reaction,sequence variants were determined by DNA sequencing. Results Five single nucleotide variants were found in the enhancer region of the β-globin gene by DNA sequencing in the Chinese population, they were 101G/C, 182G/A, 184C/A, 221G/A and 340A/T. The frequency of 101G/C, 182G/A, 184C/A and 340A/T was above 1%. Conclusion Variant 101G/C, 182G/A, 184C/A and 340A/T were single nucleotide polymorphisms within the enhancer region of the β-globin gene for the Chinese population. Variant 221G/A may be a mutation variant in theβ-globin gene.

关 键 词：β珠蛋白基因 增强子 多态性 中国人群 

分 类 号：R394.8[医药卫生—医学遗传学] R394[医药卫生—基础医学]