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).
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.
Cash
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Howard Hughes Medical Institute, Department of Human Genetics, Philadelphia, PA 19104-6072.
Monplaisir
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Goossens
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Liebhaber
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D000595:Amino Acid Sequence; D001120:Arginine / Q000235:genetics; D005796:Genes; D005914:Globins / Q000096:biosynthesis / Q000235:genetics*; D006801:Humans; D009154:Mutation; D014176:Protein Biosynthesis; D012333:RNA, Messenger / Q000302:isolation & purification; D013789:Thalassemia / Q000235:genetics; D014633:Valine / Q000235:genetics; D014900:West Indies
D012333:RNA, Messenger; D005914:Globins; D001120:Arginine; D014633:Valine