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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.

Type

Journal article

Journal

Am J Hum Genet

Publication Date

1988

Volume

43

Pages

249 - 256

Keywords

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