A NOVEL CYP2D6 ALLELE WITH AN ABOLISHED SPLICE RECOGNITION SITE ASSOCIATED WITH THE POOR METABOLIZER PHENOTYPE

A novel loss-of function allele of the CYP2D6 gene was characterized i n a PM individual using exon-by-exon PCR-SSCP analysis. This allele, w e termed CYP2D6(F), harbours four mutations including a new mutation ( D6-F) which abolishes the splice acceptor site of the Ist intron and r esults in a premature stop codon, DNA samples from a large population of healthy unrelated volunteers were tested for D6-F using a PCR-assay we developed for the specific identification of the mutation in genom ic DNA. The prevalence of D6-F was very low. However, its identificati on combined with that of the previously reported gene inactivating mut ations would further increase the phenotype prediction rate by genotyp ing.