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

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
Pages (from-to)595-606
Number of pages12
JournalCell
Volume64
Issue number3
DOIs
Publication statusPublished - Feb 8 1991

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ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology

Cite this

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