Article
Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults.
Proceedings of the National Academy of Sciences of the United States of America - 3 Jul 2007
Thein Swee Lay, Menzel Stephan, Peng Xu, Best Steve, Jiang Jie, Close James, Silver Nicholas, Gerovasilli Ageliki, Ping Chen, Yamaguchi Masao, Wahlberg Karin, Ulug Pinar, Spector Tim D, Garner Chad, Matsuda Fumihiko, Farrall Martin, Lathrop Mark
Abstract excerpt
Individual variation in fetal hemoglobin (HbF, alpha(2)gamma(2)) response underlies the remarkable diversity in phenotypic severity of sickle cell disease and beta thalassemia. HbF levels and HbF-associated quantitative traits (e.g., F cell levels) are highly heritable. We have previously mapped a major quantitative trait locus (QTL) controlling F cell levels in an extended Asian-Indian kindred with beta...
Topics
- Adolescent
- Adult
- Aged
- Chromosomes, Human, Pair 6
- DNA, Intergenic
- Erythroid Precursor Cells
- Fetal Hemoglobin
- Genetic Variation
- Humans