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Nucleic Acids Research, 1981, Vol. 9, No. 19 5037-5048
© 1981

MOLECULAR BIOLOGY

Duplication/deletion polymorphism 5'- to the human ß globin gene

Richard A. Spritz

Departments of Medical Genetics and Pediatrics, Laboratory of Genetics, University of Wisconsin 445 Henry Mall, Madison, WI 53706, USA

Received June 15, 1981. DNA sequence analysis of the human ß globin locus has identified an array of simple tandem repeated sequences upstream from the ß globin structural gene. Comparison of several cloned human ß globin alleles demonstrated a high frequency of sequence heteromorphism at this site apparently due to duplication or deletion of single units of the repeat array. At least two such duplication/deletion events are necessary to account for the observed variation. No other sequence variation was observed, suggesting that duplication/deletion events within the tandem repeat array may be at least 13 to 14 times more frequent than nucleotide substitutions in the surrounding DNA.


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