Article
A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression.
Blood - 5 May 2011
Farrell John J, Sherva Richard M, Chen Zhi-Yi, Luo Hong-Yuan, Chu Benjamin F, Ha Shau Yin, Li Chi Kong, Lee Anselm C W, Li Rever C H, Li Chi Keung, Yuen Hui Leung, So Jason C C, Ma Edmond S K, Chan Li Chong, Chan Vivian, Sebastiani Paola, Farrer Lindsay A, Baldwin Clinton T, Steinberg Martin H, Chui David H K
Abstract excerpt
Fetal hemoglobin (HbF) is regulated as a multigenic trait. By genome-wide association study, we confirmed that HBS1L-MYB intergenic polymorphisms (HMIP) and BCL11A polymorphisms are highly associated with HbF in Chinese β-thalassemia heterozygotes. In this population, the variance in HbF resulting from the HMIP is 13.5%; that resulting from the BCL11A polymorphism is 6.4%. To identify the functional variant in...
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