中国汉族人群β-珠蛋白基因BP1蛋白结合区多态性分析

Polymorphism in BP1 Binding Site Upstream of β-Globin Gene in Chinese Han Population

本研究旨在对中国汉族人群β-珠蛋白基因BP1蛋白结合区序列进行分析,获取β-珠蛋白基因BP1蛋白结合区的多态性信息,为探讨BP1蛋白结合区多态性与β-珠蛋白表达的相关性奠定基础。收集110例健康中国汉族人群的外周血,并抽提基因组DNA,通过聚合酶链反应扩增β-珠蛋白基因BP1蛋白结合区序列,经DNA测序确定BP1蛋白结合区的多态性序列。结果显示:在中国汉族人群的β-珠蛋白基因BP1蛋白结合区共发现2个多态性位点,它们分别是-551位点C/T、-530位点(AC)n(AT)xTy。在-551位点存在C和T碱基,其频率分别为60.4%和39.6%,而-530位点(AC)n(AT)xTy多态性序列存在(AC)2(AT)9T5、(AC)2(AT)8T5、(AC)2(AT)7T7、(AC)3(AT)7T5、(AC)2(AT)8T9、(AC)3(AT)8T5、(AC)2(AT)10 T3、(AC)2(AT)11 T3和(AC)2(AT)7T5共9种单倍型,它们在人群中的频率分别为33.2%、29.1%、24.1%、5.4%、3.2%、1.8%、1.4%、0.9%和0.9%。结论:在中国汉族人群β-珠蛋白基因BP1蛋白结合区内,-530位点(AC)n(AT)xTy多态性信息丰富,其中(AC)2(AT)9T5、(AC)2(AT)8T5和(AC)2(AT)7T7是三种常见单倍型。(AC)3(AT)8T5是一种新类型多态性序列。这些(AC)n(AT)xTy多态性与β-珠蛋白表达的相关性有待深入研究。

This study was aimed to analyze the BP1 binding site sequence upstream of β-globin gene in Chinese Han population,and to investigate polymorphism in the BP1 binding site upstream of β-globin gene,so as to provide the basis for exploration of relation between polymorphisms in the BP1 binding site and β-globin expression.Genomic DNA was extracted from peripheral leukocytes of 110 healthy individuals in Chinese Han population.Sequence of the BP1 binding site upstream of β-globin gene was amplified by polymerase chain reaction,the polymorphic variation in the BP1 binding site was determined by DNA sequencing.The results indicated that 2 polymorphism loci were found in the BP1 binding site upstream of β-globin gene,they were C/T at the-551 bp region and（AC）n（AT）xTy at the-530 bp region in Chinese Han population.Frequencies of C and T were 60.4% and 39.6% at position-551.Analysis of the（AC）n（AT）xTy polymorphism revealed 9 different genotypes：（AC）2（AT）9T5,（AC）2（AT）8T5,（AC）2（AT）7T7,（AC）3（AT）7T5,（AC）2（AT）8T9,（AC）3（AT）8T5,（AC）2（AT）10T3,（AC）2（AT）11T3,and（AC）2（AT）7T5 at position-530.Frequencies of 9（AC）n（AT）xTy polymorphisms were 33.2%,29.1%,24.1%,5.4%,3.2%,1.8%,1.4%,0.9%,and 0.9% respectively.It is concluded that rich（AC）n（AT）xTy polymorphisms at the-530 bp region in the BP1 binding site upstream of β-globin gene are found in Chinese Han population.（AC）2（AT）9T5,（AC）2（AT）8T5,and（AC）2（AT）7T7 are 3 major polymorphisms among Chinese Han population,and（AC）3（AT）8T5 is a novel polymorphism at the-530 bp region.More studies should be done to explore relation between（AC）n（AT）xTy polymorphisms and β-globin expression.