[广西京族人群中的硫嘌呤甲基转移酶突变等位基因]
[Mutant thiopurine S-methyltransferase alleles among Jing Chinese in Guangxi province].
作者信息
Zhang Jian-ping, Huang Min, Guan Yong-yuan, Xu An-long, Wu Jue-heng
机构信息
Institute of Clinical Pharmacology, School of Pharmaceutical Sciences, Zhongshan Medical College, PR China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Aug;20(4):303-6.
OBJECTIVE
To investigate the mutant alleles of thiopurine S-methyltransferase (TPMT) among Jing Chinese.
METHODS
Polymerse chain reaction-single strand conformation polymorphism (PCR-SSCP) techniques were developed for assaying exons 5, 7 and 10 of the TPMT gene respectively and were used to detect mutant TPMT alleles among Jing Chinese.
RESULTS
Two cases of TPMT3C (A719G) heterozygotes were identified in 103 Jing Chinese; other deleterious alleles such as TPMT2 (G238C), TPMT3A (G460A/A719G) and TPMT3B (G460A) were not found; 27 cases of silent mutant allele TPMT*1S (T474C) were also identified (5 homozygotes and 22 heterozygotes).
CONCLUSION
The PCR-SSCP assay established and adopted in this study was sensitive and reliable, which could be used to detect mutant TPMT alleles. Allele frequency of TPMT3C is low among Jing Chinese (1.0%), and TPMT3C appears to be the most prevalent deleterious allele in this population.
目的
研究京族人群中硫嘌呤甲基转移酶（TPMT）的突变等位基因。
方法
分别建立聚合酶链反应-单链构象多态性（PCR-SSCP）技术检测TPMT基因的第5、7和10外显子，并用于检测京族人群中的TPMT突变等位基因。
结果
在103名京族个体中鉴定出2例TPMT3C（A719G）杂合子；未发现其他有害等位基因，如TPMT2（G238C）、TPMT3A（G460A/A719G）和TPMT3B（G460A）；还鉴定出27例沉默突变等位基因TPMT*1S（T474C）（5例纯合子和22例杂合子）。
结论
本研究建立并采用的PCR-SSCP检测方法灵敏可靠，可用于检测TPMT突变等位基因。京族人群中TPMT3C的等位基因频率较低（1.0%），且TPMT3C似乎是该人群中最常见的有害等位基因。
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