Zhang Jian-Ping, Guan Yong-Yuan, Wu Jue-Heng, Jiang Wen-Qi, Huang Min
Department of Clinical Pharmacology, School of Pharmaceutical Sciences, Sun Yat-sen University, Guangzhou, Guangdong, PR China.
Ai Zheng. 2003 Apr;22(4):385-8.
BACKGROUND & OBJECTIVE: Several mutations in the thiopurine S-methyltransferase(TPMT) gene have been identified to correlate with a low activity or deficiency phenotype. The distribution of TPMT activity in Chinese and Caucasian populations is different, and the molecular basis has not yet to be determined. This study was designed to investigate the type and frequency of four kinds of mutant TPMT alleles of healthy Han Chinese.
TPMT genotypes were determined in 225 healthy Han Chinese. Allele-specific PCR (ASPCR) and PCR-restriction fragment length polymorphism (RFLP) were used for analysis of G238C (TPMT2), G460A and A719G (TPMT3A,*3B,*3C).
TPMT2, TPMT3B, and TPMT3A were not detected in 225 healthy Han Chinese, and only six TPMT3C heterozygotes were identified. The average TPMT activity of those TPMT*3C heterozygotes was (9.62+/-3.58) U/ml RBC. The frequency of TPMT mutant alleles was 1.33%(6/450) in healthy Han Chinese.
The frequency of the known mutant TPMT alleles in Han Chinese population is low, and TPMT*3C appears to be the most prevalent among the known mutant TPMT allele in this population.
已鉴定出硫嘌呤S-甲基转移酶（TPMT）基因中的几种突变与低活性或缺陷表型相关。TPMT活性在中国人和高加索人群中的分布不同，其分子基础尚未确定。本研究旨在调查健康汉族人群中四种突变TPMT等位基因的类型和频率。
对225名健康汉族人进行TPMT基因分型。采用等位基因特异性PCR（ASPCR）和PCR-限制性片段长度多态性（RFLP）分析G238C（TPMT2）、G460A和A719G（TPMT3A、*3B、*3C）。
在225名健康汉族人中未检测到TPMT2、TPMT3B和TPMT3A，仅鉴定出6名TPMT3C杂合子。这些TPMT*3C杂合子的平均TPMT活性为（9.62±3.58）U/ml红细胞。健康汉族人群中TPMT突变等位基因的频率为1.33%（6/450）。
汉族人群中已知的TPMT突变等位基因频率较低，TPMT*3C似乎是该人群中已知的TPMT突变等位基因中最常见的。
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