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阿塞拜疆β地中海贫血的异质性

Heterogeneity of beta-thalassemia in Azerbaidzhan.

作者信息

Dergunova L V, Ryskov A P, Slominsky P A, Rustamov R S, Limborska S A

出版信息

Haematologia (Budap). 1984;17(4):473-81.

PMID:6241915
Abstract

Globin chain synthesis, RNA and DNA of beta-thalassemic patients from Azerbaidzhan were analyzed. A beta-mRNA deficiency was found in beta +-thalassemic reticulocytes. In one case of beta +-thalassemia, it was possible to study nuclear and cytoplasmic RNA from spleen erythroid cells. The alpha/beta mRNAs sequence ratio was 5 in the nuclear and cytoplasmic RNAs. In patients with beta o-thalassemia a different level of beta-globin mRNA was demonstrated. Gene mapping analysis indicated that the general organization of the beta-globin gene was normal in the investigated cases of beta-thalassemia.

摘要

对来自阿塞拜疆的β地中海贫血患者的珠蛋白链合成、RNA和DNA进行了分析。在β+地中海贫血网织红细胞中发现了β-mRNA缺乏。在一例β+地中海贫血中,有可能研究脾脏红系细胞的核RNA和胞质RNA。核RNA和胞质RNA中的α/β mRNAs序列比为5。在β0地中海贫血患者中,β-珠蛋白mRNA水平不同。基因图谱分析表明,在所研究的β地中海贫血病例中,β-珠蛋白基因的总体结构正常。

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