Jennings M W, Jones R W, Wood W G, Weatherall D J
Nucleic Acids Res. 1985 Apr 25;13(8):2897-906. doi: 10.1093/nar/13.8.2897.
We have cloned and sequenced the DNA from two regions of the defective beta-globin gene cluster from a patient with Indian A gamma delta beta thalassaemia, and confirmed the complex and unusual pattern of rearrangement involving two separate deletions (0.8 kb and 7.5 kb) the inversion of the 15.5 kb segment separating them, as previously proposed from gene mapping studies [1]. All four breakpoints occur within the transcribed region of the globin genes and at one junction are found six nucleotides of unknown origin. This unique rearrangement results in enhanced expression of the upstream fetal gene, and is therefore is pertinent to the localisation of any putative control region involved in the coordinate expression of fetal and adult genes.
我们已对一名患有印度 Aγδβ地中海贫血患者的缺陷β-珠蛋白基因簇的两个区域的 DNA 进行了克隆和测序,并证实了涉及两个单独缺失(0.8 kb 和 7.5 kb)以及分隔它们的 15.5 kb 片段倒位的复杂且不寻常的重排模式,正如先前基因图谱研究中所提出的那样[1]。所有四个断点均出现在珠蛋白基因的转录区域内,并且在一个连接处发现了六个来源不明的核苷酸。这种独特的重排导致上游胎儿基因的表达增强,因此与参与胎儿和成人基因协同表达的任何假定控制区域的定位相关。