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. 1981 Oct 10;9(19):5037-47.
doi: 10.1093/nar/9.19.5037.

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

R A Spritz

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

R A Spritz. Nucleic Acids Res. .

Abstract

DNA sequence analysis of the human beta globin locus has identified an array of simple tandem repeated sequences upstream from the beta globin structural gene. Comparison of several cloned human beta 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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