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| 中国新疆维吾尔族硫嘌呤甲基转移酶基因突变研究 | |
| 引用本文： | 张建萍,黄民,关永源,白丽,魏红,吴珏珩. 中国新疆维吾尔族硫嘌呤甲基转移酶基因突变研究[J]. 中国临床药理学杂志, 2003, 19(5): 345-347 |
| 作者姓名： | 张建萍 黄民 关永源 白丽 魏红 吴珏珩 |
| 作者单位： | 1. 中山大学,药学院,临床药理研究所,广东,广州,510089 2. 中山大学,中山医学院,药理教研室,广东,广州,510089 3. 新疆医科大学,药理教研室,新疆,乌鲁木齐,830000 |
| 基金项目： | 国家自然科学基金(No.30171098)，广东省高教厅人才基金(No.200032) |
| 摘 要： | 目的 研究硫嘌呤甲基转移酶(thiopurine S-methyltransferase，TPMT)在新疆维吾尔族中的基因突变频率。方法 用等位基因特异性的PCR方法和限制性片断长度多态性的方法检测4种常见的导致酶活性降低的突变类型：TPMT*2、TPMT*3A、TPMT*3B和TPMT*3C。结果 在160名维吾尔族中发现了1例TPMT*3A(A719G／G460A)杂合子、5例TPMT*3C(A719G)杂合子，TPMT*3A和TPMT*3C的等位基因频率分别是0．3％和1．6％。结论 维吾尔族总的TPMT突变等位基因频率(1．9％)同中国其他民族相近；TPMT*3C是维吾尔族最主要的突变类型。 |
| 关 键 词： | 中国 新疆 维吾尔族 硫嘌呤甲基转移酶 基因突变 TPMT 统计学 |
| 文章编号： | 1001-6821(2003)05-0345-03 |
Mutant thiopurine S-methyltransferase alleles among Uygur ethnic population in Xinjiang of China |
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| ZHANG Jian-ping,HUANG Min,GUAN Yong-yuan,BAI Li,WEI Hong,WU Jue-heng. Mutant thiopurine S-methyltransferase alleles among Uygur ethnic population in Xinjiang of China[J]. The Chinese Journal of Clinical Pharmacology, 2003, 19(5): 345-347 | |
| Authors: | ZHANG Jian-ping HUANG Min GUAN Yong-yuan BAI Li WEI Hong WU Jue-heng |
| Abstract: | Objective To investigate the thiopurine S-methyltransferase (TPMT) gene mutation in Uygur nationality in Xinjiang of China. Methods Allele-specific PCR (ASPCR) and PCR-restriction fragment length polymorphism (RFLP) were used for analysis of four commonly reported inactivating mutant allele, TPMT*2, TPMT*3A, TPMT*3B and TPMT*3C. Results One TPMT*3A heterozygote and five TPMT*3C heterozygote were found in 160 Uygur people, and allele frequencies of TPMT*3A and TPMT*3C were 0.3% and 1.6% respectively. Conclusion The total frequency of mutant TPMT alleles in Uygur ethnic population (1.9%) is similar to that in other Chinese ethnic populations. TPMT*3C appears to be the most prevalent mutant allele in this population. |
| Keywords: | thiopurine S-methyltransferase gene mutation Uygur nationality |
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