A novel human DNA polymorphism resulting from transfer of DNA from chromosome 6 to chromosome 16
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Updated: Aug 16, 2026

Chromosome Replicating Timing Combined with Fluorescent In situ Hybridization
Published on: December 10, 2012
Z Wong1, N J Royle, A J Jeffreys
1Department of Genetics, University of Leicester, United Kingdom.
Abstract:
A cloned minisatellite, termed lambda MS29, that is unusual because it detects two variable loci in human DNA has been isolated. One locus, DNF21S1, located in the terminal region of the short arm of human chromosome 6, is also present in great apes. The second minisatellite locus, DNF21S2, is located interstitially on chromosome 16p11 and is absent both from non-human primates and from some humans. Physical mapping and sequencing show that the second locus has arisen recently in evolution by duplication of a large (greater than 15 kb) segment of chromosome 6 DNA containing a minisatellite and transposition onto chromosome 16 into a member of a novel low-copy-number repetitive DNA family. This unusual duplication/transposition event appears to represent the first example of a human DNA polymorphism arising through DNA-mediated, rather than RNA-mediated, transfer between autosomes.
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