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Locus assignment of two alpha-globin structural mutants from the Caribbean basin: alpha Fort de France (alpha 45 Arg) and alpha Spanish Town (alpha 27 Val)

FE Cash, N Monplaisir, M Goossens and SA Liebhaber

Howard Hughes Medical Institute, Department of Human Genetics, Philadelphia, PA 19104-6072.

Two alpha-globin structural mutants were mapped to their encoding loci by in vitro translation of hybrid-selected alpha 1- and alpha 2-globin mRNA. The more highly expressed mutant, alpha Spanish Town (alpha 27Val), is encoded at the alpha 2 locus and the less expressed mutant, alpha Fort de France (alpha 45Arg), is encoded at the alpha 1 locus. These results further define the distribution of alpha-globin structural mutations within the alpha-globin gene cluster and substantiate the dominant role of the alpha 2-globin locus in alpha- globin expression.

Volume 74, Issue 2, pp. 833-835, 08/01/1989
Copyright © 1989 by The American Society of Hematology


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