A Novel 0 - Globin Mutation , @ Durham - NC [ @ l 14 Leu ” + Pro ] , Produces a Dominant Thalassemia - Like Phenotype
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چکیده
Mutations within exon 3 of the @-globin gene are relatively uncommon, and many of these mutations produce a dominant thalassemia-like phenotype. We describe a novel thalassemic hemoglobinopathy caused by a single nucleotide substitution (CTG + CCG) at codon 1 14 resulting in a leucine to proline substitution and designate it @Durham-NC B1 14 Leu + Pro]. The mutation producing this thalassemic hemoglobinopathy is located near to the BShowa-Yakushiji mutation M1 10 Leu + Pro). Both of these hemoglobinopathies share similar phenotypic features with moderately severe microcytic anemia. Using computer imaging of the hemoglobin molecule. we examined several reported point mutations within exon 3 of the @-globin
منابع مشابه
Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the beta-globin gene.
Mutations producing beta-thalassemia reach individual gene frequencies greater than .01 in malarial-endemic regions because beta-thalassemia trait individuals have increased genetic fitness over that of normal individuals. Exon 3 of the beta-globin gene has been relatively spared as a site of common beta-thalassemia mutations. Frameshifts caused by the loss of a single nucleotide and nonsense m...
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