Four new mutations in the BCHE gene of human butyrylcholinesterase in a Brazilian blood donor sample.

@article{Souza2005FourNM,
  title={Four new mutations in the BCHE gene of human butyrylcholinesterase in a Brazilian blood donor sample.},
  author={Ricardo L. R. Souza and Liya R Mikami and Rodrigo O B Maegawa and Eleidi Alice Chautard-Freire-Maia},
  journal={Molecular genetics and metabolism},
  year={2005},
  volume={84 4},
  pages={349-53}
}
The genetic variation of human butyrylcholinesterase has been associated with height, body mass index, Alzheimer's disease, and response to xenobiotic agents. The present study reports four new mutations, found in the exon 2 of the BCHE gene, in a sample from 3001 Brazilian blood donors. The three nonsynonymous mutations and one synonymous mutation detected are: 223G-->C, G75R; 270A-->C, E90 D; 297T-->G, I99 M; 486T-->C, A162 A, respectively. All these variants are rare: 0.093+/-0.093% for the… CONTINUE READING

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