CAJ | 학술논문

背景:研究已证实细胞色素P450酶同工酶2C19,其代谢表型呈现遗传多态性,表现为强、弱代谢型,而且存在显著的种族间和个体间差异.目的:观察新疆维吾尔族人群胞色素P450酶同工酶2C19基因多态性分布情况.方法:纳入144例新疆维吾尔族和156例汉族健康志愿者,采用多聚酶链反应-限制性片段长度多态性法进行细胞色素P450酶同工酶2C19基因多态性分析,进一步观察维吾尔族和汉族人基因表型和基因频率的差异.结果与结论:新疆维吾尔族人群强代谢型基因wt/wt,wt/m1,wt/m1+wt/m2的总频率明显高于汉族(P<0.05),而弱代谢型基因m1/m1的总频率明显低于汉族(P<0.05).维吾尔族和汉族的wt,m1,m2的等位基因频率差异均有显著性意义(P<0.05),其中m1等位基因频率为m2的58倍(P<0.01).结果显示,中国新疆维吾尔族人群胞色素P450酶同工酶2C19弱代谢型(m1/m1)频率低于汉族,由于m1等位基因频率远高于汉族人群,因此维吾尔族胞色素P450酶同工酶2C19基因突变以m1型为主.
배경:연구이증실세포색소P450매동공매2C19,기대사표형정현유전다태성,표현위강、약대사형,이차존재현저적충족간화개체간차이.목적:관찰신강유오이족인군포색소P450매동공매2C19기인다태성분포정황.방법:납입144례신강유오이족화156례한족건강지원자,채용다취매련반응-한제성편단장도다태성법진행세포색소P450매동공매2C19기인다태성분석,진일보관찰유오이족화한족인기인표형화기인빈솔적차이.결과여결론:신강유오이족인군강대사형기인wt/wt,wt/m1,wt/m1+wt/m2적총빈솔명현고우한족(P<0.05),이약대사형기인m1/m1적총빈솔명현저우한족(P<0.05).유오이족화한족적wt,m1,m2적등위기인빈솔차이균유현저성의의(P<0.05),기중m1등위기인빈솔위m2적58배(P<0.01).결과현시,중국신강유오이족인군포색소P450매동공매2C19약대사형(m1/m1)빈솔저우한족,유우m1등위기인빈솔원고우한족인군,인차유오이족포색소P450매동공매2C19기인돌변이m1형위주.
BACKGROUND: Previous studies demonstrated that,metabolic phenotype of cytochrome P450 2C19 has genetic polymorphism,which presents with extensive or poor metabolisms and has great differences in races and individuals.OBJECTIVE: To study the genotype distribution of cytochrome P450 2C19 in Xinjiang Uigur population.METHODS: In total 144 unrelated Uigur and 156 unrelated Han subjects were genotyped for cytochrome P450 2C19 by polymerase chain reaction-restriction fragment length polymorphism.The differences of gene phenotype and gene frequency were compared between Uigur and Han populations.RESULTS AND CONCLUSION: The frequency of extensive metabolism wt/wt,wt/m and wt/m1+wt/m2 of Uigur was notably higher than that of Han population(P<0.05),but the frequency of poor metabolism m1/m1 was obviously lower than that of Han population(P<0.05).There were significant differences between Uigur and Han populations in allele frequency wt,m1 and m2(P<0.05),especially m1,which was 58-fold of m2(P<0.01).The results revealed that,distribution frequency m1/m1 of poor metabolism of Uigur is obviously lower than that in Han population,and m1 frequency is higher than that of Han population,accordingly,m1 is the main gene mutation of cytochrome P450 2C19 in Uigur population.