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如典型的β-地中海贫血一样,血红蛋白E(α_2β_2~(26G1u→Lys))患者可表现为红细胞β-珠蛋白及其mRNA生成不足。通过实验研究克隆β~E-珠蛋白基因的结构及表达,发现此病的分子基础是第26位密码子GAG变为AAG以及由此突变引起的RNA处理异常。这些研究结果提出了基因功能失常的一种新机理,即外显子突变可引起β~E-基因表达异常。
Like the typical β-thalassemia, hemoglobin E (α 2β 2 ~ (26G 1u → Lys)) patients can be expressed as erythrocyte β-globin and its mRNA underproduction. The structure and expression of the cloned β-E-globin gene were studied experimentally. The molecular basis of the disease was found to be that the codon GAG changed from the 26th to the AAG and the RNA processing abnormalities caused by this mutation. These findings present a new mechanism of gene dysfunction that exon mutations can cause abnormal expression of βE-gene.