Article
Direct demonstration that the A gamma T globin gene is linked to the 4 bp promoter deletion in the beta A chromosome of sickle cell traits.
American journal of hematology - 1 Aug 1993
Gilman J G, Josifovska O, Erlingsson S, Milner P F, Nagel R L
Abstract excerpt
In beta zero-thalassemia and sickle cell patients, a 4 bp deletion at -222 to -225 of the A gamma globin promoter was associated with low expression of the A gamma T variant (threonine at codon 75 of A gamma), whereas A gamma I (isoleucine at 75) had the normal A gamma promoter and higher express...
Topics
- Alleles
- Anemia, Sickle Cell
- Base Sequence
- Chromosomes
- DNA
- Gene Deletion
- Genetic Linkage
- Globins
- Humans
- Immunoblotting
- Isoleucine
- Molecular Sequence Data
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Promoter Regions, Genetic
- Threonine