Abstract
F cells measure the presence of fetal hemoglobin, a heritable quantitative trait in adults that accounts for substantial phenotypic diversity of sickle cell disease and beta thalassemia. We applied a genome-wide association mapping strategy to individuals with contrasting extreme trait values and mapped a new F cell quantitative trait locus to BCL11A, which encodes a zinc-finger protein, on chromosome 2p15. The 2p15 BCL11A quantitative trait locus accounts for 15.1% of the trait variance.
Publication types
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Anemia, Sickle Cell / genetics
-
Carrier Proteins / genetics*
-
Chromosome Mapping
-
Chromosomes, Human, Pair 2*
-
Fetal Hemoglobin / genetics*
-
Fetal Hemoglobin / metabolism
-
Genetic Variation
-
Genome, Human
-
Humans
-
Nuclear Proteins / genetics*
-
Phenotype
-
Quantitative Trait Loci*
-
Repressor Proteins
-
Zinc Fingers / genetics
-
beta-Thalassemia / genetics
Substances
-
BCL11A protein, human
-
Carrier Proteins
-
Nuclear Proteins
-
Repressor Proteins
-
Fetal Hemoglobin