温州地区汉族人群CYP2C19和CYP2C9基因多态性分析

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摘要目的：研究温州地区汉族人群CYP2C19、CYP2C9基因多态性分布。方法：采用聚合酶链式反应和测序方法，对287例健康人群CYP2C19、CYP2C9基因多态性进行分析。结果：温州地区汉族人群的CYP2C19*1、CYP2C19*2和CYP2C19*3三种等位基因的频率分别为65.16%、29.27%和5.57%；CYP2C19*1/*1、CYP2C19*1/*2、CYP2C19*1/*3、CYP2C19*2/*3、CYP2C19*2/*2和CYP2C19*3/*3基因型的频率分别为44.95%、33.45%、6.97%、4.18%、10.45%和0.00%，弱代谢率为14.63%；CYP2C9*1和CYP2C9*3等位基因频率分别为97.74%和2.26%，CYP2C9*1/*1和CYP2C9*1/*3的基因频率为95.47%和4.53%，未发现CYP2C9*3/*3。结论：温州地区汉族人群CYP2C19和CYP2C9弱代谢率与已报道的汉族人群基本一致，与日本人群相近，显著高于欧美人群。

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	周怀彬
	王金丹
	胡理怀
	温超玮
	吕建新

关键词 ： P450, CYP2C19, CYP2C9, 多态性, 温州地区, 汉族

Abstract：Objective: To investigate distribution status of CYP2C19 and CYP2C9 genotype in Wenzhou Han population. Methods: The CYP2C19 and CYP2C9 genotype of 287 Wenzhou Han Chinese were determined by sequencing. Results: In Wenzhou Han population, CYP2C19*1, CYP2C19*2 and CYP2C19*3 allele frequencies were 65.16%, 29.27% and 13.6%, respectively; CYP2C19*1/*1, CYP2C19*1/*2, CYP2C19*1/*3, CYP2C19*2/*3, CYP2C19*2/*2 and CYP2C19*3/*3 genotype frequencies were 44.95%, 33.45%, 6.97%, 4.18% and 0.00%, respectively. The frequency of CYP2C19 poor metabolisms was 14.63%; CYP2C9*1 and CYP2C9*3 allele frequencies were 97.74% and 2.26%, respectively; CYP2C9*1/*1 and CYP2C9*1/*3 genotype frequencies were 95.47% and 4.53%, respectively, CYP2C9*3/*3 homozygous genotype was not found in this study. Conclusion: The frequencie of CYP2C19 and CYP2C9 poor metabolisms are similar to those of Japanese population, whereas they are significantly different from America-European populations.

Key words： cytochrome P450 CPY2C19 CYP2C9 polymorphism Wenzhou Han population

收稿日期: 2014-05-05

基金资助:国家青年科学基金资助项目（81200253）；浙江省重点科技创新团队资助项目（2012R10048）。

通讯作者: 吕建新，教授，博士生导师，Email：jxlu313@163.com。

作者简介: 周怀彬（1981-），男，浙江永嘉人，助理实验师，遗传学硕士。

链接本文:

https://xb.wmu.edu.cn/CN/ 或 https://xb.wmu.edu.cn/CN/Y2014/V44/I12/864

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