Phenotyping and genotyping studies of thiopurine S-methyltransferase in Kazaks

Wei, H, Zhou, S, Li, C, Zhang, J, Wu, J, Chen, X and Huang, M 2005, 'Phenotyping and genotyping studies of thiopurine S-methyltransferase in Kazaks', Pharmaceutical Research, vol. 22, no. 10, pp. 1762-1766.


Document type: Journal Article
Collection: Journal Articles

Title Phenotyping and genotyping studies of thiopurine S-methyltransferase in Kazaks
Author(s) Wei, H
Zhou, S
Li, C
Zhang, J
Wu, J
Chen, X
Huang, M
Year 2005
Journal name Pharmaceutical Research
Volume number 22
Issue number 10
Start page 1762
End page 1766
Total pages 5
Publisher Springer New York LLC
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.
Subject Basic Pharmacology
DOI - identifier 10.1007/s11095-005-7095-1
ISSN 0724-8741
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