Article
Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the beta-globin gene.
Blood - 1 Jun 1992
Kazazian H H, Dowling C E, Hurwitz R L, Coleman M, Stopeck A, Adams J G
Abstract excerpt
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 mutations produce...
Topics
- Aged
- Base Sequence
- Chromosome Deletion
- Codon
- Exons
- Female
- Globins
- Humans
- Infant
- Male
- Molecular Sequence Data
- Mutation