Abstract
The identification of a novelCYP2D6 allele from a healthy Caucasian poor metabolizer was achieved by using a previously described polymerase chain reaction/single-strand conformation polymorphism strategy. Among the four point mutations that this allele carries, a missense mutation in exon 1 (212 G → A or D6-H) seems to be responsible for the loss of CYP2D6 function. Although the mutation D6-H has a low prevalence in a randomly selected population of healthy Caucasians, its identification should further increase the phenotype prediction rate by genotyping.
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Marez, D., Legrand, M., Sabbagh, N. et al. An additional allelic variant of the CYP2D6 gene causing impaired metabolism of sparteine. Hum Genet 97, 668–670 (1996). https://doi.org/10.1007/BF02281880
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DOI: https://doi.org/10.1007/BF02281880