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We have located a highly polymorphic region of DNA approximately 100 kb upstream of the human alpha-globin genes (the alpha-globin 5' hypervariable region; 5'HVR). The element responsible is a minisatellite sequence comprising a variable copy number tandem repeat array of a G/C-rich 57-bp sequence. This increases the number of minisatellite elements in the vicinity of the alpha-globin genes to five, all of which share a region of sequence identity, thus raising questions concerning the distribution and origins of such tandem repeat sequences. The 5'HVR is highly polymorphic and, together with other hypervariable regions at this locus, provides a valuable genetic marker on the short arm of chromosome 16.


Journal article


American journal of human genetics

Publication Date





249 - 256


University of Oxford, John Radcliffe Hospital, Nuffield Department of Clinical Medicine, Headington, England.


Chromosomes, Human, Pair 16, Humans, Globins, DNA, Satellite, Cloning, Molecular, Genetics, Population, Base Sequence, Polymorphism, Restriction Fragment Length, Multigene Family, Molecular Sequence Data