Jackson I J, Freund R M, Wasylyk B, Malcolm A D, Williamson R
Eur J Biochem. 1981 Dec;121(1):27-31. doi: 10.1111/j.1432-1033.1981.tb06424.x.
The red blood cell precursors of a patient with homozygous beta 0-thalassaemia have previously been shown to contain nuclear, but not cytoplasmic, beta-globin-specific transcripts. We describe the isolation of a beta-globin gene from this patient as a recombinant bacteriophage chromosome. Restriction-enzyme cleavage-site mapping experiments demonstrate no detectable deletions, insertions or major rearrangements in this thalassaemia gene. Two different techniques show that the gene isolated is transcribed as efficiently in vitro as the normal beta-globin gene.
先前已表明，纯合β⁰地中海贫血患者的红细胞前体含有细胞核内而非细胞质中的β珠蛋白特异性转录本。我们描述了从该患者中分离出一个β珠蛋白基因，并将其作为重组噬菌体染色体。限制性内切酶切割位点图谱实验表明，该地中海贫血基因未检测到缺失、插入或重大重排。两种不同技术表明，所分离的基因在体外转录效率与正常β珠蛋白基因相同。
