华南地区汉族痴呆人群CYP2C19基因多态性及代谢表型  

Analysis of CYP2C19 gene polymorphism and metabolic phenotype in dementia patients of Han nationality in Southern China

作　　者：徐鹏[1] 胡国艳[1] 邱萍英[1] 何柯新[1] 洪剑浩[1] 林裕龙[1] XU Peng HU Guo-yan QIU Ping-ying HE Ke-xin HONG Jian-hao LIN Yu-long(Department of Laboratory Medicine, the Affiliated Brain Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510370, China)

机构地区：[1]广州医科大学附属脑科医院检验科,广东广州510370

出　　处：《热带医学杂志》2017年第7期877-879,903,共4页Journal of Tropical Medicine

基　　金：广东省科技计划项目(2016A020215022)

摘　　要：目的探讨华南地区汉族痴呆人群CYP2C19基因多态性及代谢表型的分布,并分析性别与CYP2C19基因多态性的关系。方法以DNA微阵列技术检测327例痴呆患者的CYP2C19基因多态性及代谢表型,用基因计数法计算基因型频率和等位基因频率,同时分析基因多态性发生频率与性别的相关性。结果所有检测对象中,六种CYP2C19基因型(CYP2C19*1/*1,*1/*2,*1/*3,*2/*2,*2/*3,*3/*3)频率分别为:37.3%、41.6%、8.6%、9.5%、2.4%、0.6%;3种代谢表型(快代谢型,中等代谢型,慢代谢型)所占比例分别为:38.2%、49.2%、12.5%;不同性别之间CYP2C19基因型及代谢表型差异无统计学意义。结论华南地区汉族痴呆患者CYP2C19基因多态性及代谢表型的分布与中国其他地区汉族人群分布基本一致,且分布与性别无相关性。Objective To investigate the polymorphism of CYP2C19 gene and the distribution of metabolic phenotypes in dementia patients of Han nationality,and the relationship between sex and CYP2C19 gene polymorphism was explored. Methods DNA microarray was used to detect the CYP2C19 gene polymorphism and metabolic phenotype in 327 dementia patients,and the relationship between different gender and the frequency of genetic polymorphism was analyzed. Results The frequencies of the six detected genotype CYP2C19 ＊1/＊1,＊1/＊2,＊1/＊3,＊2/＊2,＊2/＊3,and ＊3/＊3 were 37.3%,41.6%, 8.6%,9.5%,2.4%,and 0.6%,respectively;the frequencies of 3 metabolic phenotypes extensive metabolizer,intermediate metabolizer,and poor metabolizer were 38.2%,49.2%,and 12.5%,respectively. There was no significant difference in CYP2C19 genotype and metabolic phenotype between different gender groups. Conclusion The polymorphism of CYP2C19 gene and the distribution of metabolic phenotype in dementia patients of Han nationality in Southern China were consistent with those in other regions of China. Relationship between the CYP2C19 gene polymorphisms and gender was not found.

关 键 词：痴呆 CYP2C19基因多态性 代谢表型 

分 类 号：R394.3[医药卫生—医学遗传学]