UGT1A9 C-2152T 和UGT2B7 G211T 突变在中国汉族人群中的分布

中国临床药理学与治疗学 ›› 2007, Vol. 12 ›› Issue (4): 460-464.

UGT1A9 C-2152T 和UGT2B7 G211T 突变在中国汉族人群中的分布

易娟¹, 谢海棠^1,2, 周宏灏¹

¹中南大学临床药理研究所, 长沙410078, 湖南;
²安徽省药物临床评价中心, 芜湖241001, 安徽

收稿日期:2007-02-12 修回日期:2007-02-12 发布日期:2020-10-30
通讯作者: 周宏灏,男, 教授, 博导, 主要从事遗传药理和临床药理学研究。Tel:0731-4804028 E-mai l:hhzhou2003 @163.com

Distribution of UGT1A9 C-2152T and UGT2B7 G211T mutants in Chinese Han population

YI Juan¹, XIE Hai-tang^1,2, ZHOU Hong-hao¹

¹Institute of Clinical Pharmacology, Central South University, Changsha 410078, Hunan, China;
²Anhui Provincial Centre for Drug Clinical Evaluation, Wuhu 241001, Anhui, China

Received:2007-02-12 Revised:2007-02-12 Published:2020-10-30

摘要/Abstract

摘要： 目的建立Touch-down PCR RFLP 的方法检测UGT1A9 C-2152T 突变, 建立PCR RFLP 的方法检测UGT2B7 G211T 突变, 确定其在中国汉族人群中的突变频率。方法采用Touch-down PCR RFLP 方法, 对100 名无亲缘关系的汉族男性志愿者进行UGT1A9C-2152T 的基因分型。采用PCR RFLP 方法, 对363名无亲缘关系的汉族志愿者(其中男性263 名、女性100 名) 进行UGT2B7 G211T 的基因分型。结果在100 名中国汉族男性受试者中, 末发现UGT1A9 C-2152T 的突变, 与亚洲人通过测序报道的结果基本一致。在363 名汉族受试者中, UGT2B7 G211T 突变发生频率为0.158, 与日本人通过测序报道的结果基本一致。中国男性和女性的等位基因频率分别为0.128 和0.110, 男性的突变频率比女性高(χ2 =6.784, P =0.034) 。结论用PCR RFLP 的方法对UGT2B7 G211T 突变分型的方法简便、快速、重复性好, 可用于大样本人群的基因检测。UGT2B7 G211T突变在中国汉族人中发生频率较高。

关键词: UGT1A9, UGT2B7, 突变, 基因型

Abstract: AIM: Detection of UGT2B7 G211T and UGT1A9 C-2152T variant alleles, and knowledge about their allelic frequency in a Chinese population. METHODS: To determine the allelic frequency of the UGT1A9 C-2152T in a group of 100 Chinese male subjects by using of touch-down polymerase chain reaction-restriction fragment length polymorphism (Touch-down PCR RFLP) assays.To determine the allelic frequency of the UGT2B7 G211T mutant in a group of 363 Chinese subjects by using of polymerase chain reaction-restriction fragment length polymorphism (PCR RFLP) assays. RESULTS: The frequency of the UGT1A9 C-2152T mutant allele was rare in a Chinese population which was similar to that of Asian people.In a group of 363 unrelated individuals, the frequency of the UGT2B7 G211T mutant in Chinese population was 0.158, which was similar to that of Japanese.The allelic frequency in Chinese male was 0.128, which was statistically higher than that of Chinese female 0.110. CONCLUSION: We have found a PCR-RFLP assay for genotyping UGT2B7 G211T mutant.This straightforward and prompt PCR-RFLP assay has a good reproducibility, and therefore can be used to genotype for the UGT2B7 G211T polymorphism in a large population samples.The frequency of the UGT2B7 G211T mutant allele is high in a Chinese population.

Key words: UGT1A9, UGT2B7, mutant, genotype

中图分类号:

R968

易娟, 谢海棠, 周宏灏. UGT1A9 C-2152T 和UGT2B7 G211T 突变在中国汉族人群中的分布[J]. 中国临床药理学与治疗学, 2007, 12(4): 460-464.

YI Juan, XIE Hai-tang, ZHOU Hong-hao. Distribution of UGT1A9 C-2152T and UGT2B7 G211T mutants in Chinese Han population[J]. Chinese Journal of Clinical Pharmacology and Therapeutics, 2007, 12(4): 460-464.

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