RESUMO

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.

Assuntos

Genes , Globinas/genética , Mutação , Sequência de Aminoácidos , Arginina/genética , Globinas/biossíntese , Humanos , Biossíntese de Proteínas , RNA Mensageiro/isolamento & purificação , Talassemia/genética , Valina/genética , Índias Ocidentais