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Genetic polymorphism of drug metabolizing enzymes can be the major determinant of inter-individual differences in drug disposition and effects. In this mini-review, the evolution of pharmacogenetic studies, from the recognition of phenotypic polymorphisms to the discovery of genetic mutations responsible for these inherited traits, is illustrated by the genetic polymorphism of thiopurine S-methyltransferase...
Purpose. To isolate and characterize the polymorphic human thiopurine S-methyltransferase (TPMT) gene. Methods. The human TPMT gene was isolated by PCR screening of a phage artificial chromosome (PAC) library, using exon- and intron-specific primers, then mapped and sequenced. Results. Two separate PAC1 clones were isolated that contained the same 25 kb gene with 9 exons encompassing the...
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