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血红蛋白E纯合子中βE信使核糖核酸在红系细胞成熟过程中的不稳定性

Instability of beta E-messenger RNA during erythroid cell maturation in hemoglobin E homozygotes.

作者信息

Traeger J, Winichagoon P, Wood W G

出版信息

J Clin Invest. 1982 Apr;69(4):1050-3. doi: 10.1172/jci110510.

Abstract

Hemoglobin E interacts with beta-thalassemia to produce a disorder of variable severity that is the most common form of symptomatic thalassemia in Southeast Asia. The beta E-globin gene acts as a mild thalassemia gene; there are low levels of beta E-messenger RNA (mRNA) in reticulocytes, and preliminary evidence had suggested that this might be due to instability of the beta E-mRNA. Analysis of beta E-mRNA levels in the nuclei and cytoplasm of bone marrow erythroblasts compared with reticulocytes has shown higher levels of beta E-mRNA in the former, providing direct evidence that this is the case.

摘要

血红蛋白E与β地中海贫血相互作用,导致一种严重程度各异的疾病,这是东南亚最常见的有症状地中海贫血形式。βE珠蛋白基因起着轻度地中海贫血基因的作用;网织红细胞中βE信使核糖核酸(mRNA)水平较低,初步证据表明这可能是由于βE-mRNA不稳定所致。与网织红细胞相比,对骨髓成红细胞细胞核和细胞质中βE-mRNA水平的分析显示,前者中βE-mRNA水平较高,这提供了直接证据证明情况确实如此。

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Negro alpha-thalassaemia is caused by deletion of a single alpha-globin gene.
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