Strong linkage disequilibrium of a HbE variant with the (AT)9(T)5 repeat in the BP1 binding site upstream of the β-globin gene in the Thai population

@article{Ohashi2005StrongLD,
  title={Strong linkage disequilibrium of a HbE variant with the (AT)9(T)5 repeat in the BP1 binding site upstream of the β-globin gene in the Thai population},
  author={Jun Ohashi and Izumi Naka and Jintana Patarapotikul and Hathairad Hananantachai and Gary M. Brittenham and Sornchai Looareesuwan and Andrew G. Clark and Katsushi Tokunaga},
  journal={Journal of Human Genetics},
  year={2005},
  volume={50},
  pages={7-11}
}
AbstractA binding site for the repressor protein BP1, which contains a tandem (AT)x(T)y repeat, is located approximately 530 bp 5′ to the human β-globin gene (HBB). There is accumulating evidence that BP1 binds to the (AT)9(T)5 allele more strongly than to other alleles, thereby reducing the expression of HBB. In this study, we investigated polymorphisms in the (AT)x(T)y repeat in 57 individuals living in Thailand, including three homozygotes for the hemoglobin E variant (HbE; β26Glu->Lys), 22… CONTINUE READING

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