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. 1985 Apr 25;13(8):2897–2906. doi: 10.1093/nar/13.8.2897

Analysis of an inversion within the human beta globin gene cluster.

M W Jennings, R W Jones, W G Wood, D J Weatherall
PMCID: PMC341202  PMID: 4000967

Abstract

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.

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Selected References

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