摘要
目的:研究细胞色素P4502C19基因(CYP2C19)在中国汉族人群中的基因型及等位基因突变频率,并考察性别、年龄(18～80岁)和体重指数对中国汉族人群CYP2C19遗传多态性的影响。方法:应用PCR与DNA测序技术相结合的方法对283名(126名男性,157名女性;年龄18～80岁,体重指数:17～31)中国汉族健康人进行CYP2C19基因多态性分析。结果:本研究中一共检测到CYP2C19的六个不同基因突变型,野生型纯合子CYP2C19*1/*1占42.4%(120/283),CYP2C19*2和CYP2C19*3的等位基因频率分别为29.2%和6.7%,14.2%(40/283)为CYP2C19的慢代谢基因型。126名男性中,CYP2C19*2和*3的等位基因频率为28.2%和5.2%;157名女性中,CYP2C19*2和*3的等位基因频率为29.9%和8%。18～45岁年龄组,CYP2C19*2和*3的等位基因频率为28.1%和6.6%;大于等于45岁年龄组,CYP2C19*2和*3的等位基因频率为29.9%和6.8%。体重指数小于25,CYP2C19*2和*3的等位基因频率为31.1%和6.6%;大于25,CYP2C19*2和*3的等位基因频率为22.7%和7.0%。结论:在中国汉族健康受试人群中,CYP2C19*2和*3的基因型在不同性别、年龄和体重指数的发生频率没有显著统计学差异。可以初步推断,性别、年龄和体重指数可能不是CYP2C19遗传多态性的主要影响因素。
AIM： To identify the distribution feature of cytochrome P450 2C19 （CYP2C19） gene, and assess the effects of gender, age （ 18 - 80 years old） and body weight on genetic polymorphism of CYP2C19 in a Chinese Han population. METHODS： Two hundred and eightthree unrelated, healthy Chinese Han population subjects （126 males and 157 females, aged from 18 to 80）were genotyped for CYP2C19 to identify the wild-type （CYP2C19 ＊ 1） gene and two mutations （CYP2CI9 ＊ 2/ CYP2C19 ＊ 3 ） by PCR and DNA sequencing. RESULIS： Six different allelic variants of CYP2C19 gene were observed in this study. 42.4% （120 of the 283 subjects）were homozygous for the wild type CYP2C19 ＊ 1/＊ 1 in total by the genotyping analysis. The frequencies of the CYP2C19 ＊ 2 and ＊ 3 alleles were 29.2% and 6.7% respectively. 14.2% （40 of 283 subjects） were genotypically identified as PMs of CYP2C19. Of 126 genotyped male subjects, the CYP2C19 ＊ 2 and ＊ 3 allele frequencies were 28.2% and 5.2%. And among the 157 female subjects, the frequencies of the two alleles were 29.9% and 8.0%. The frequencies of CYP2C19 ＊ 2 and CYP2C19 ＊ 3 alleles in different ages were 29.9% and 6.8% （18 to 45 years old） versus 28.1% and 6.6% （no less than 45 years old）. Body mass index （BMI） is an optimal way to examine obesity rather than actual body weight. BMI 〉 25 indicates the individual is overweight. The frequencies of the CYP2C19 ＊ 2 and ＊ 3 alleles were 31.1% and 6.6 % in BMI 〈 25 group versus 22.7 % and 7% in BMI 〉 25 group. CONCLUSION： There are no statistically significant difference in the occurrence of CYP2C19 ＊ 2 and CYP2C19 ＊ 3 among gender （P 〉 0.05）, age （P〉0.05） and BMI （P〉0.05）. So gender, age and BMI may have no significant effect on genetic polymorphism of CYP2C19.
出处
《中国临床药理学与治疗学》
CAS
CSCD
2007年第2期208-213,共6页
Chinese Journal of Clinical Pharmacology and Therapeutics
