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Human Molecular Genetics, Vol 5, 1163-1169, Copyright © 1996 by Oxford University Press

ARTICLES

Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements

J Flint, J Rochette, CF Craddock, C Dode, B Vignes, SW Horsley, L Kearney, VJ Buckle, H Ayyub and DR Higgs
MRC Molecular Haematology Unit, John Radcliffe Hospital, Headington, Oxford, UK.

We have characterised a subtelomeric rearrangement involving the short arm of chromosome 16 that gives rise to alpha-thalassaemia by deleting the major, remote regulatory element controlling alpha-globin expression. The chromosomal breakpoint lies in an Alu family repeat located only approximately 105 kb from the 16p subtelomeric region. The broken chromosome has been stabilised with a newly positioned telomere acquired by recombination between this 16p Alu element and a closely related subtelomeric Alu element of the Sx subfamily. It seems most likely that this abnormal chromosome has been rescued by the mechanism of telomere capture which may reflect a more general process by which subtelomeric sequences are normally dispersed between chromosomal ends.
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