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| 中国哈萨克族人硫嘌呤甲基转移酶活性分布和基因多态性 | |
| 引用本文： | 魏红,黄民,李智毅,张祯,张建萍,吴珏珩.中国哈萨克族人硫嘌呤甲基转移酶活性分布和基因多态性[J].中国临床药理学杂志,2005,21(6):423-426. |
| 作者姓名： | 魏红 黄民 李智毅 张祯 张建萍 吴珏珩 |
| 作者单位： | 1. 深圳儿童医院,药剂科,广东,深圳,518026 2. 中山大学,药学院,临床药理研究所,广东,广州,510089 3. 广东省劳教局医院,广东,佛山,528136 4. 伊宁新华医院,新疆,伊宁,835000 |
| 基金项目： | 国家自然科学基金资助项目（30171098）;广东省高教厅人才基金资助项目（200032） |
| 摘 要： | 目的 研究硫嘌呤甲基转移酶(TPMT)在中国哈萨克族的活性分布和4 种常见TPMT基因突变等位基因频率。方法 用高效液相色谱法测定TPMT 活性;用等位基因特异性聚合酶链反应检测TPMT*2;用限制性片段长度多态性 检测TPMT*3A、TPMT*3B和TPMT*3C的等位基因频率。结果 哈萨克族T PMT活性呈正态分布,活性的均值为(12．27±3．42)U·mL-1 Rbc,其中发现6 例TPMT*3C杂合子和2例TPMT*3A杂合子,总TPMT基因突变频率是1．2％。 结论 中国哈萨克族TPMT活性呈正态分布,总TPMT基因突变频率同汉族相 比差异无显著性。 |
| 关 键 词： | 硫嘌呤甲基转移酶 表型 基因型 中国哈萨克族 |
| 文章编号： | 1001-6821（2005）06-0423-04 |
| 收稿时间： | 2004-09-13 |
| 修稿时间： | 2004-09-132005-03-05 |
Thiopurine S -methyltransferase activity distribution and genetic polymorphism in Chinese Kazakstan |
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| WEI Hong,HUANG Min,LI Zhi-yi,ZHANG Zhen,ZHANG Jian-ping,WU Jue-heng.Thiopurine S -methyltransferase activity distribution and genetic polymorphism in Chinese Kazakstan[J].The Chinese Journal of Clinical Pharmacology,2005,21(6):423-426. | |
| Authors: | WEI Hong HUANG Min LI Zhi-yi ZHANG Zhen ZHANG Jian-ping WU Jue-heng |
| Institution: | WEI Hong,HUANG Min,LI Zhi-yi,ZHANG Zheng,ZHANG Jian-ping,WU Jue-heng Department of Pharmacy,Shenzhen Child Hospital,Shenzhen 518026,China Institute of Clinical Pharmacology,School of Pharmaceutical Sciences,Sun Yat-sen University,Guanzhou 510089,China Guangdong Province Hospital of Reeducation Through Labor Office,Fushan 528136,China Yining Xinhua Hospital,Yining 835000,China |
| Abstract: | Objective To investigate the activity disterbution of thiopurine S - methyltransferase (TPMT) and allelic frequency of four common TPMT mutant alleles in Chinese Kazakstan. Methods A HPLC assay was used to measure activity of erythrocyte TPMT. Allele - specific PCR (ASPCR ) and PCR - restriction fragment length polymorphism (RFLP) were used for analysis of genotype frequency of TPMT*2 (G238C) ,TPMT*3A (G460A/ A719G),TPMT*3B(G460A) and TPMT*3C (A719G) ,respectively. Results Unimodal distribution of TPMT activity was found in Chinese Kazakstan. Only TPMT*3C and TPMT*3A heterozygote was found in Kazakstan Chinese. Conclusion There were no statistically significant differences in Chinese Kazakstan and Chinese Han in distribution of TPMT activity and genotype frequence of TPMT. |
| Keywords: | thiopurine S - methyhransferase genotype pheotype Chinese Kazakstan |
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