中文摘要：

目的 探讨高血压候选基因CYP4F2基因调控区G421C多态位点与原发性高血压的相关性及其作用机制.方法 采用聚合酶链式反应-限制性片段长度多态方法检测196例高血压患者和219名正常对照者的G421C位点等位基因和基因型频率,报告基因检测CYP4F2基因G421C的启动子活性,凝胶阻滞实验鉴定G421C多态所在的Myb反应元件.结果 G421C位点的基因型和等位基因频率在原发性高血压和正常对照者间差异具有显著性（P＜0.05）,携带GG纯合子基因型的个体患病风险增高（OR=1.87,95%CI 1.11～3.13,P＜0.05）;421G等位基因启动子活性明显低于421C启动子（P＜0.05）;421G位点位于Myb反应元件中,而421C位点破坏了该基序.结论CYP4F2基因调控区的G421C多态与原发性高血压发生相关,421G等位基因通过与Myb反应元件结合抑制该基因的转录.

英文摘要：

Objective To investigate the correlation between G421 C polymorphism in the regulatory region of CYP4F2 gene and essential hypertension and its molecular mechanism. Methods Totally 196 hypertensive patients （ hypertension group） and 219 normotensive subjects （ control group） were genotyped by polymerase chain reaction-restriction fragment length polymorphism. The promoter activity with different alleles was evaluated by reporter assay. A Myb responsive element was identified using gel retardation assay. Results Significant differences were found in distribution of genotype and allele frequency of G421C between hypertension group and control group （ P 〈 0.05 ） , and homozygous GG genotype was independently associated with hypertension after adjustment for age, gender, body mass index, and other risk factors （ odds ratios 1.87, 95% CI 1.11-3. 13, P 〈 0. 05 ）. 421G reporter construct showed decreased promoter activity compared with 421C reporter construct. 421G existed in Myb responsive element, whereas 421C damaged this motif. Conclusionu G421C polymorphism in the regulatory region of CYP4F2 gene is correlated with essential hypertension. 421G allele inhibits transcription by binding affinity of Myb responsive element.