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We have characterised an unusual, highly polymorphic region of DNA located 8-kb downstream of the human alpha-globin gene complex. This hypervariable region (alpha-globin 3' HVR) is composed of an array of 17-bp tandem repeats, the number of which differs considerably (70-450) from one allele to another. The sequence of the 17-bp repeats is highly conserved within and between alleles. Furthermore, this sequence identifies a core oligonucleotide [5'-GNGGGG(N)ACAG-3'] that is common to three previously characterised hypervariable regions. At reduced stringency, a probe to the 3' HVR detects a new family of multiallelic loci that will be of value in the study of human genetics.

Original publication




Journal article


The EMBO journal

Publication Date





1857 - 1863


Humans, DNA Restriction Enzymes, Globins, Cloning, Molecular, Nucleic Acid Hybridization, Base Sequence, Repetitive Sequences, Nucleic Acid, Genes, Alleles, Genetic Variation, Biological Evolution