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.
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 expression. However, it has been reported that the beta A chromosomes of sickle cell trait cases have the 4 bp deletion as a common polymorphism unlinked to the A gamma T allele. We now present data demonstrating the association of the A gamma T allele with the 4 bp deletion in beta A chromosomes of sickle cell traits.
Gilman
J G
JG
Division of Hematology, Albert Einstein College of Medicine/Montefiore Medical Research Center, Bronx, NY 10467.
Josifovska
O
O
Erlingsson
S
S
Milner
P F
PF
Nagel
R L
RL
D000483:Alleles; D000755:Anemia, Sickle Cell / Q000235:genetics*; D001483:Base Sequence; D002875:Chromosomes / Q000737:chemistry*; D004247:DNA / Q000032:analysis / Q000235:genetics*; D017353:Gene Deletion; D008040:Genetic Linkage / Q000235:genetics*; D005914:Globins / Q000235:genetics*; D006801:Humans; D015151:Immunoblotting; D007532:Isoleucine / Q000032:analysis; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics*; D013912:Threonine / Q000032:analysis
D007532:Isoleucine; D013912:Threonine; D005914:Globins; D004247:DNA