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血红蛋白E(Hb E)是我国常见的异常血红蛋白病,它是由β-珠蛋白基因第26位编码子的G→A点突变引起.因Hb E与β-地中海贫血症状相似,又称之为地中海贫血样综合征;它也常与β-地中海贫血复合存在,危害严重.利用转基因动物技术研究真核基因表达调控已取得重要进展.已发现β-珠蛋白基因簇和α-珠蛋白基因簇上游区的DNase Ⅰ敏感区能明显提高珠蛋白基因的表达水平.其中β-基因簇的HS-2和α-基因簇的HS-40具有典型的增强子作用.
Hemoglobin E (Hb E) is a common abnormal hemoglobin disease in our country, which is caused by G → A point mutation of codon 26 of β-globin gene. Because Hb E is similar to β-thalassemia, it is also called Thalassemia-like syndrome; it is also often combined with β-thalassemia, which is seriously detrimental. The use of transgenic animal technology to study the regulation of eukaryotic gene expression has made important progress. It has been found that β-globin gene cluster and α-globin gene cluster DNase Ⅰ sensitive region in the upstream region can significantly increase the expression of globin gene, HS-2 gene of β-gene cluster and HS-40 gene of α-gene cluster have typical enhancer effect.