广东口岸原发性高血压患者基因库建设及应用  

Development and application of the gene pool among the patients with essential hypertension at Guangdong port

作　　者：幸芦琴[1] 苏锦坤[1] 张建明[1] 王冰[1] 陈建东[1] 王向阳[1] 秦慧[1] 

机构地区：[1]广东国际旅行卫生保健中心,广东广州510000

出　　处：《中国国境卫生检疫杂志》2016年第3期175-179,共5页Chinese Journal of Frontier Health and Quarantine

基　　金：广东出入境检验检疫局科技计划资助项目(2014GDK67)

摘　　要：目的以原发性高血压患者为研究对象,掌握降压药物代谢相关基因突变情况。方法按照随机抽样法原则,对广东国际旅行卫生保健中心体检发现的高血压患者进行问卷调查,统计分析。提取患者血样DNA建立基因库,利用Taq Man-MGB探针荧光PCR检测细胞色素P450酶系CYP家族的3个基因4个位点(CYP2C9基因rs1057910位点,CYP2C19基因rs4244285/rs4986893位点,CYP2D6基因rs10658523位点)的突变情况。结果共采集298份血液样本,5年以上高血压病史患者占58%,患者集中在60岁左右。降压用药仍以钙离子拮抗剂、普利类(ACEI)和沙坦类(ARB)为主。检测到CYP2D6*10纯合突变54例,占18.1%,杂合突变166例,占55.7%;CYP2C9杂合突变24例,占8.1%,未检测到CYP2C9纯合突变;CYP2C19*2纯合突变37例,占12.4%,杂合突变123例,占41.3%;CYP2C19*3杂合突变25例,占8.4%。结论医生可依据个体基因型的差异,指导患者合理用药。Objective Detected the genetic mutations associated with antihypertensive drug metabolism which from Guangdong International Travel Heahhcare Center. Methods Used the TaqMan-MGB probe fluorescence PCR to detect the cytochrome P450 enzyme system of CYP gene loci （including rs1057910 CYP2C9 gene loci,rs4244285 / rs4986893 CYP2C19 gene loci,rs10658523 CYP2D6 gene loci） after the extraction of DNA. Results A total of 298 blood samples were collected. With the familial transmissihility,hypertension patients were concentrated in about 60 years old,sick for more than 5 years accounted for 58%.They were always used the calcium channel blockers drugs, ACEI and ARB drugs. There were 54 homozygous mutations （18.1%）and 166 heterozygous mutation cases（55.7%） at CYP2D6＊10 gene loci;24 heterozygous mutations （8.1%）at CYP2C9 gene loci; 37 homozygous mutations （12.4% ）and 123 heterozygous mutation （41.3%）at CYP2C19＊2 gene loci; 25 heterozygous mutations （8.4%）at CYP2C19＊3 gene loci. Conclusion The individual genotypes would be the basis of clinical medicine implementation.

关 键 词：原发性高血压 基因库 

分 类 号：R541.3[医药卫生—心血管疾病]