AN ADDITIONAL ALLELIC VARIANT OF THE CYP2D6 GENE CAUSING IMPAIRED METABOLISM OF SPARTEINE

The identification of a novel CYP2D6 allele from a healthy Caucasian p oor metabolizer was achieved by using a previously described polymeras e chain reaction/single-strand conformation polymorphism strategy. Amo ng the four point mutations that this allele carries, a missense mutat ion in exon 1 (212 G --> A or D6-H) seems to be responsible for the lo ss of CYP2D6 function. Although the mutation D6-H has a low prevalence in a randomly selected population of healthy Caucasians, its identifi cation should further increase the phenotype prediction rate by genoty ping.