Article
DNA sequence variation in a negative control region 5' to the beta-globin gene correlates with the phenotypic expression of the beta s mutation.
Blood - 1 Feb 1992
Elion J, Berg P E, Lapouméroulie C, Trabuchet G, Mittelman M, Krishnamoorthy R, Schechter A N, Labie D
Abstract excerpt
The clinical diversity of sickle cell anemia is strongly related to the degree of intracellular hemoglobin S (Hb S) polymerization, which in turn is dependent on the intracellular concentration of Hb S. We have recently defined a region of DNA approximately 500 bp 5' to the human beta-globin gene...
Topics
- Africa
- Anemia, Sickle Cell
- Base Sequence
- DNA-Binding Proteins
- Gene Expression Regulation
- Genetics, Population
- Globins
- Haplotypes
- Hemoglobin, Sickle
- Humans
- India
- Molecular Sequence Data
- Oligodeoxyribonucleotides
- Phenotype
- Polymorphism, Restriction Fragment Length
- Regulatory Sequences, Nucleic Acid