Article
A novel C-T transition within the distal CCAAT motif of the G gamma-globin gene in the Japanese HPFH: implication of factor binding in elevated fetal globin expression.
Nucleic acids research - 11 Sept 1990
Fucharoen S, Shimizu K, Fukumaki Y
Abstract excerpt
Hereditary persistence of fetal hemoglobin (HPFH) is a condition characterized by the continued expression of the fetal globin gene in adulthood. Both deletional and nondeletional forms have been described. We studied one Japanese family with two different nondeletional forms of HPFH. Analysis of...
Topics
- Base Sequence
- Binding, Competitive
- Deoxyribonuclease I
- Female
- Fetal Hemoglobin
- Gene Expression Regulation
- Genes
- Globins
- Haplotypes
- Hemoglobinopathies
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length