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Title: Phenotyping and genotyping studies of thiopurine S-methyltransferase in Kazaks
Authors: Wei, H.
Zhou, S. 
Li, C.
Zhang, J.
Wu, J.
Huang, M.
Keywords: Enzyme activity
Thiopurine S-methyltransferase
Issue Date: Oct-2005
Citation: Wei, H., Zhou, S., Li, C., Zhang, J., Wu, J., Huang, M. (2005-10). Phenotyping and genotyping studies of thiopurine S-methyltransferase in Kazaks. Pharmaceutical Research 22 (10) : 1762-1766. ScholarBank@NUS Repository.
Abstract: Objective. This study was conducted to investigate the thiopurine S-methyltransferase (TPMT) activity distribution and gene mutations in Kazaks, and compared the results with those of other ethnic groups. Methods. Erythrocyte TPMT activity was measured in Kazaks (n = 327) via a validated high-performance liquid chromatography assay. Polymerase chain reaction-based methods were used to analyze three commonly reporter-inactivating mutations: G238C, G460A, and A719G. Results. Unimodal distribution of TPMT activity was found in Kazaks. Six TPMT*3C heterozygotes and two TPMT*3A heterozygotes were found in 327 Kazaks, with allele frequencies of 0.9 and 0.3%, respectively. The subjects with TPMT*3A and TPMT*3C heterogygotes had substantial TPMT activity over the range of 6.40-11.75 U/ml RBC. Conclusion. Unlike in most Caucasians, TPMT*3C is a common mutant allele in Kazaks, whereas TPMT*3A is a rare mutant allele. Further studies are needed to explore the clinical impact of these TPMT mutants to thiopurine therapy in Kazak patients. © 2005 Springer Science + Business Media, Inc.
Source Title: Pharmaceutical Research
ISSN: 07248741
DOI: 10.1007/s11095-005-7095-1
Appears in Collections:Staff Publications

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