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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 To study the patients with essential hypertension to master the gene mutation related to antihypertensive drug metabolism. Methods According to the principle of random sampling, questionnaires and statistical analysis were conducted on hypertensive patients detected by physical examination in Guangdong International Travel Health Care Center. Genomic DNA was extracted from the blood samples of patients and the four loci of CYP family of cytochrome P450 enzymes (rs1057910, CYP2C19 rs4244285 / rs4986893, CYP2D6) were detected by TaqMan-MGB probe. rs10658523 site) mutations. Results A total of 298 blood samples were collected, with 58% of patients with a history of hypertension over 5 years, and the patients were concentrated at 60 years of age. Antihypertensive drugs are still calcium antagonists, Puli class (ACEI) and sartan (ARB) based. 54 cases of CYP2D6 * 10 homozygous mutation were detected, accounting for 18.1%, 166 cases of heterozygous mutation (55.7%), 24 cases of CYP2C9 heterozygous mutation (8.1%), no CYP2C9 homozygous mutation was detected, and CYP2C19 * 2 homozygous mutation 37 cases, accounting for 12.4%, heterozygous mutation 123 cases, accounting for 41.3%; CYP2C19 * 3 heterozygous mutation in 25 cases, accounting for 8.4%. Conclusion According to the differences of individual genotypes, doctors can guide patients to use drugs rationally.