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Nucleic Acids Research, 1986, Vol. 14, No. 12 4743-4750
© 1986

Articles

A silent deletion in the ß-globin gene cluster

V. E. Tate, A. V. S. Hill*, D. K. Bowden+, J. R. Sadler, D. J. Weatherall and J. B. Clegg

MRC Molecular Haematology Unit, Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital Headington, Oxford OX3 9DU +Department of Anatomy, Monash University Clayton, Victoria, Australia

*To whom correspondence should be addressed

Received April 24, 1986. Revised May 27, 1986. Accepted May 27, 1986.

A survey of the {gamma}–globin gene region of over 1000 normal individuals revealed a novel 2.5kb deletion which removes the 5' end of the {gamma}–globin gene. Unusually, this deletion in the ß–globin gene cluster is not associated with increased fetal haemoglobin production. Sequence analysis of the deletion endpoints revealed no significant homology at the breakpoint and failed to support a role for a proposed recombination hotspot in IVS–2 in the generation of this illegitimate recombination event. The existence of small "silent" deletions in the p–globin gene cluster emphasizes the importance of deletion size in altering expression of the fetal globin genes.


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