β0地中海贫血中的转录和转录后缺陷。

Transcriptional and post-transcriptional defects in beta0-thalassaemia.

作者信息

Comi P, Giglioni B, Barbarano L, Ottolenghi S, Williamson R, Novakova M, Masera G

出版信息

Eur J Biochem. 1977 Oct 3;79(2):617-22. doi: 10.1111/j.1432-1033.1977.tb11846.x.

DOI:10.1111/j.1432-1033.1977.tb11846.x

Abstract

Complementary DNA enriched in sequences hybridizing to beta-globin mRNA was prepared with viral RNA-dependent DNA polymerase and used as a probe for the presence of beta-globin mRNA in nuclear and cytoplasmic RNA from two Italian patients with beta0-thalassaemia. In both cases the beta-globin gene was present and cytoplasmic mRNAbeta was absent; however, one case appeared to transcribe mRNAbeta and to fail to process it, while the other appeared transcriptionally defective. Evidence is also presented that the low levels of hybridization usually found at high RNA/cDNAbeta ratios in beta0-thalassaemia are due to delta-globin mRNA; the melting profile of the hybrid formed has been determined and a low melting temperature relative to mRNAbeta - cDNAbeta demonstrated.

摘要

利用病毒RNA依赖性DNA聚合酶制备了富含与β-珠蛋白mRNA杂交序列的互补DNA，并将其用作探针，检测两名意大利β0-地中海贫血患者的细胞核和细胞质RNA中β-珠蛋白mRNA的存在情况。在这两个病例中，β-珠蛋白基因均存在，但细胞质中的mRNAβ缺失；然而，其中一例似乎转录了mRNAβ但未能对其进行加工，而另一例则表现出转录缺陷。同时还提供了证据表明，在β0-地中海贫血中，通常在高RNA/cDNAβ比例下发现的低水平杂交是由于δ-珠蛋白mRNA所致；已确定所形成杂交体的解链曲线，并证明其相对于mRNAβ-cDNAβ的解链温度较低。