维吾尔族人群中硫嘌呤甲基转移酶的基因突变
Gene mutation of thiopurine S-methyltransferase in Uygur Chinese.
作者信息
Zhang Jian-Ping, Guan Yong-Yuan, Xu An-Long, Zhou Shu-Feng, Wu Jue-Heng, Wei Hong, Huang Min
机构信息
Institute of Clinical Pharmacology, School of Pharmaceutical Sciences, Sun Yat-sen University, 74 Zhongshan Road, Section 2, 510080 Guangzhou, P.R. China.
出版信息
Eur J Clin Pharmacol. 2004 Mar;60(1):1-3. doi: 10.1007/s00228-004-0730-7. Epub 2004 Feb 20.
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 TPMT3A heterozygote and five TPMT3C heterozygotes were found in 160 Uygur Chinese subjects, and allele frequencies of TPMT3A and TPMT3C were 0.3% and 1.6%, respectively.
CONCLUSION
TPMT3C is a common mutant allele in Uygur Chinese, while TPMT3A is a rare mutant allele in Uygur Chinese.
目的
本研究旨在调查维吾尔族人群中硫嘌呤甲基转移酶（TPMT）的基因突变情况。
方法
采用基于聚合酶链反应的方法分析三种常见的失活突变——G238C、G460A和A719G。
结果
在160名维吾尔族受试者中发现1例TPMT3A杂合子和5例TPMT3C杂合子，TPMT3A和TPMT3C的等位基因频率分别为0.3%和1.6%。
结论
TPMT3C是维吾尔族人群中常见的突变等位基因，而TPMT3A是维吾尔族人群中罕见的突变等位基因。
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