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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.

Original publication




Journal article


Hum Mol Genet

Publication Date





1163 - 1169


Adolescent, Adult, Alleles, Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 16, DNA, DNA Primers, Female, Gene Rearrangement, Genotype, Globins, Haplotypes, Humans, In Situ Hybridization, Fluorescence, Male, Middle Aged, Molecular Sequence Data, Multigene Family, Polymerase Chain Reaction, Recombination, Genetic, Repetitive Sequences, Nucleic Acid, Sequence Homology, Nucleic Acid, Telomere, alpha-Thalassemia