Analysis of the CYP2D6 gene in relation to debrisoquin and desipramine hydroxylation in a Swedish population

摘要: The molecular basis of polymorphic debrisoquin hydroxylation was studied in 223 Swedish white subjects, 187 extensive metabolizers and 36 poor phenotyped with desipramine. Restriction fragment length polymorphism (RFLP) analysis the CYP2D6 gene revealed that 52% unrelated were homozygous for Xba I 29 kb fragment, only 8% had two mutant alleles detected RFLP. Alkie-specific polymerase chain reaction (PCR)?based DNA amplification, however, all but one CYP2D6A or CYP2D6B type both. Extensive who heterozygous wild-type genes metabolic ratios desipramine higher than those subjects gene. 16 + 9 RFLP pattern associated metabolizer phenotype mutations. Three extremely rapid a 44 did not carry either In conclusion, population studied, allele-specific PCR amplification allowed prediction 99% accuracy. Clinical Pharmacology Therapeutics (1992) 51, 12–17; doi:10.1038/clpt.1992.2