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Gene mutation of thiopurine<Emphasis Type="Italic"> S</Emphasis>-methyltransferase in Uygur Chinese
Authors:Jian-Ping?Zhang  Yong-Yuan?Guan  An-Long?Xu  Shu-Feng?Zhou  Jue-Heng?Wu  Hong?Wei  Email author" target="_blank">Min?HuangEmail author
Institution:(1) Institute of Clinical Pharmacology, School of Pharmaceutical Sciences, Sun Yat-sen University, 74 Zhongshan Road, Section 2, 510080 Guangzhou , P.R. China;(2) Department of Pharmacology, Zhongshan Medical College, Sun Yat-sen University, 510089 Guangzhou , P.R. China;(3) School of Life Sciences, Sun Yat-sen University, 510080 Guangzhou , P.R. China;(4) Department of Pharmacy, Faculty of Science, National University of Singapore, Singapore
Abstract:Objective This study was to investigate the gene mutation of thiopurine S-methyltransferase (TPMT) in Uygur Chinese.Methods Polymerase chain reaction-based methods were used to analyze three commonly reported inactivating mutations—G238C, G460A and A719G.Results One TPMT*3A heterozygote and five TPMT*3C heterozygotes were found in 160 Uygur Chinese subjects, and allele frequencies of TPMT*3A and TPMT*3C were 0.3% and 1.6%, respectively.Conclusion TPMT*3C is a common mutant allele in Uygur Chinese, while TPMT*3A is a rare mutant allele in Uygur Chinese.
Keywords:Thiopurine  S-methyltransferase  Gene mutation
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