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

Abstract excerpt

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...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adolescent
• Share to Alleles
• Share to Base Sequence