β地中海贫血中人类β-珠蛋白基因的结构
The structure of the human beta-globin gene in beta-thalassaemia.
作者信息
Flavell R A, Bernards R, Kooter J M, de Boer E, Little P F, Annison G, Williamson R
出版信息
Nucleic Acids Res. 1979 Jun 25;6(8):2749-60. doi: 10.1093/nar/6.8.2749.
Twenty-one cases of beta 0 and beta +-thalassaemia have been analysed by restriction endonuclease mapping. In most cases no deletion in the regions surrounding the beta- and delta-globin genes could be detected. However, in a single Asian case of beta 0-thalassaemia, homozygous clinically, one of the homologous chromosomes contained a beta-globin gene with a deletion of 600 base pairs of DNA and comprising most or all of the 3' end of the structural gene including the EcoRI restriction site within the beta-globin coding sequence.
通过限制性内切酶图谱分析了21例β0和β±地中海贫血病例。在大多数情况下，未检测到β珠蛋白基因和δ珠蛋白基因周围区域的缺失。然而，在1例临床诊断为纯合子的亚洲β0地中海贫血病例中，其中一条同源染色体含有一个β珠蛋白基因，该基因缺失了600个碱基对的DNA，包括结构基因3'端的大部分或全部，其中包括β珠蛋白编码序列内的EcoRI限制性酶切位点。
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