Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

Previous work has demonstrated discontinuous length variation at the tip of the short arm of human chromosome 16 (16pter) due to polymorphism of the subtelomeric region. We have now analyzed the zone where the two most common subtelomeric alleles (A and B) diverge. This lies 145 kb distal to the alpha-globin genes and comprises a complex segment of approximately 4 kb where there is partial loss of homology between the alleles, preceding the final point of divergence. Most notably, there is an imperfect (CA)n repeat that differs in length with different 16pter alleles and is exceptionally large (n = 250-350) in the case of the A allele and homologous sequences on Xqter and Yqter. Both the (CA)n expansion and the genetic exchange between chromosomes 16, X, and Y seem to have occurred since the divergence of man from other great apes. The occurrence of long (CA)n tracts may be related to the biology of subtelomeric regions.

Original publication




Journal article



Publication Date





81 - 88


Alleles, Animals, Base Sequence, Biological Evolution, Blotting, Southern, Chromosomes, Human, Pair 16, Globins, Hominidae, Humans, Molecular Sequence Data, Polymerase Chain Reaction, Polymorphism, Genetic, Repetitive Sequences, Nucleic Acid, Sequence Homology, Nucleic Acid, Telomere