We analyzed all the exons and exon-intron junctions of the CYP2D6 gene from 286 Japanese individuals. We detected two novel single nucleotide polymorphisms (SNPs) 2556C>T in exon 5 (Thr261Ile) and 3835A>C in exon 8 (Lys404Gln). Both these SNPs showed a frequency of 0.002.

Using competitive allele-specific oligonucleotide hybridization with immunochromatographic strip (CASSOH), we have developed a simplified method for the detection of eight polymorphisms that are especially important in the identification of drug responders or non-responders and patients at increased risk of drug toxicity. The genotyping method is unambiguously determined by the presence or the absence of visible purple lines on the immunochromatographic strip, and results are obtained within 5 min after PCR. This method is rapid, highly sensitive, simplified, and should be suitable for point-of-care genotyping in clinical settings.

No abstract