中国独龙族人群中CYP 2C19基因多态性的分布  

The gene diversity distribution of metabolic enzyme CYP2C19 in Chinese Dulong population

作　　者：叶峻杰[1] 彭林[1] 张松 唐莉 焦云萍 董兆文 

机构地区：[1]云南省计划生育技术科学研究所,昆明650021 [2]国家计划生育科学技术研究所,北京100081

出　　处：《中国新药杂志》2004年第3期266-268,共3页Chinese Journal of New Drugs

基　　金：云南省生育调节与少数民族优生研究重点实验室基金(20000101)

摘　　要：目的:研究细胞色素P450 2C19(CYP 2C19)基因在中国云南独龙族人群中的基因型及突变频率。方法:采用聚合酶链式反应(PCR)与限制性内切酶片段长度多态性技术,分析205例独龙族人的基因型。结果:84例为CYP 2C19野生型纯合子(wt/wt);98例为CYP 2C19ml杂合子(wt/ml);23例为CYP 2C19ml突变型纯合子(ml/ml),CYP 2C19ml突变频率为0.351。结论:中国云南独龙族人群P450 2C19存在突变,突变频率与国内各种族相比具有一定的可比性。Objective: To study the genotype and mutation rate of cytochrome P450 2C19 in Dulong population,a minority nationality in Yunnan province of China. Methods:The genotypes of 205 Dulong subjects were studied by PCR and PFLP (restricted fragment length polymorphism) technique .Results:It indicated that among 205 subjects studied,84 were homozygous for wild type (wt/ wt) ,98 were heterozygous for CYP 2C19 ml (wt/ml) and 23 were homozygous for CYP 2C19ml(ml/ ml) with a mutation rate of 0.351. Conclusion:There are P450 2C19 mutations among Duong population in Yunnan province of China with a mutation rate comparable to other nationalities in China.

关 键 词：细胞色素P450 2C19 基因型 聚合酶链式反应 

分 类 号：Q343.1[生物学—遗传学] Q559.9