Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16

Andrew O.M. Wilkie, Douglas R. Higgs, Katrina A. Rack, Veronica J. Buckle, Nigel K. Spurr, Nathan Fischel-Ghodsian, Isabella Ceccherini, William R.A. Brown, Peter C. Harris

Research output: Contribution to journalArticle

143 Scopus citations

Abstract

We have completed a long-range restriction map of the terminal region of the short arm of human chromosome 16 (16p13.3) by physically linking a distal genetic locus (α-globin) with two recently isolated probes to telomere-associated repeats (TelBam3.4 and TelBam11). Comparison of 47 chromosomes has revealed major polymorphic length variation in this region: we have Identified three alleles in which the α-globin genes lie 170 kb, 350 kb, or 430 kb from the telomere. The two most common alleles contain different terminal segments, starting 145 kb distal to the α-globin genes. Beyond this boundary these alleles are non-homologous, yet each contains sequences related to other (different) chromosome termini. This chromosome size polymorphism has probably arisen by occasional exchanges between the subtelomeric regions of nonhomologous chromosomes; analogous length variation is likely to be present at other human telomeres.

Original languageEnglish (US)
Pages (from-to)595-606
Number of pages12
JournalCell
Volume64
Issue number3
DOIs
StatePublished - Feb 8 1991

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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    Wilkie, A. O. M., Higgs, D. R., Rack, K. A., Buckle, V. J., Spurr, N. K., Fischel-Ghodsian, N., Ceccherini, I., Brown, W. R. A., & Harris, P. C. (1991). Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16. Cell, 64(3), 595-606. https://doi.org/10.1016/0092-8674(91)90243-R