A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15 |
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| Authors: | Menzel Stephan Garner Chad Gut Ivo Matsuda Fumihiko Yamaguchi Masao Heath Simon Foglio Mario Zelenika Diana Boland Anne Rooks Helen Best Steve Spector Tim D Farrall Martin Lathrop Mark Thein Swee Lay |
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| Affiliation: | King's College London School of Medicine, Division of Gene and Cell Based Therapy, King's Denmark Hill Campus, London SE5 9PJ, UK. |
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| 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. |
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