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目的:本文对硫嘌呤甲基转移酶（Thiopurine S-methyltransferase,TPMT）在广东连南地区健康汉族儿童（n=87）和瑶族儿童（n=126）中的活性分布和4种常见TPMT基因突变的等位基因频率进行研究。方法:采用高效液相色谱法测定红细胞的TPMT活性;采用等位基因特异性的PCR（allelespecific PCR,ASPCR）方法和限制性片断长度多态性（PCR-restrictionfragment length polymorphism,RFLP）的方法检测 TPMT2（G238C）、TPMT3A（A719G/G460A）、TPMT3B（G460A）和 TPMT3C（A719G）的等位基因频率。结果:健康汉族儿童和瑶族儿童的TPMT活性都呈正态分布,活性的平均值分别为13.01±2.80U·ml-1pRBC和13.54±3.89U·ml-1pRBC,两者的差异无显著性。在健康汉族儿童中只找到1例TPMT3C杂合子（该汉族儿童的TPMT活性为12.36U·ml-1pRBC）,没有找到TPMT2、TPMT3A和TPMT3B,汉族儿童总的TPMT基因突变频率是0.6％。在健康瑶族儿童中没有找到这几种突变。结论:广东连南地区汉族和瑶族儿童TPMT的活性分布和总的TPMT基因突变频率没有显著性差异。
OBJECTIVE: To investigate the distribution of Thiopurine S-methyltransferase (TPMT) in healthy Han children (n = 87) and Yao children (n = 126) in south Guangdong Province and four common TPMT gene mutations Allele frequency of the study. Methods: TPMT activity of erythrocytes was determined by high performance liquid chromatography (HPLC); allele-specific PCR (ASPCR) and restriction fragment length polymorphism (RFLP) (G238C), TPMT3A (A719G / G460A), TPMT3B (G460A) and TPMT3C (A719G). Results: The TPMT activity of healthy Han children and Yao children showed a normal distribution with average activity values of 13.01 ± 2.80U · ml-1pRBC and 13.54 ± 3.89U · ml-1pRBC, respectively. There was no significant difference between the two groups. Only one case of TPMT3C heterozygous (12.36U · ml-1pRBC) was found in healthy Han children. No TPMT2, TPMT3A and TPMT3B were found. The total frequency of TPMT mutations in Han children was 0.6%. No such mutations were found in healthy Yao children. CONCLUSION: There is no significant difference in the distribution of TPMT and the total frequency of TPMT mutations between Han and Yao children in Liannan of Guangdong Province.