Analysis of an inversion within the human beta globin gene cluster

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Abstract
We have cloned and sequenced the DNA from two regions of the defective β-g1obin gene cluster from a patient with Indian Aγδβ thalassaemia, and confirmed the complex and unusual pattern of rearrangement involving two seperate deletions (0.8 kb and 7.5 kb) the inversion of the 15.5 kb segment seperating 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.