摘要
目的研究中国汉族人群细胞色素P450酶4F2基因(cytochrome P-450 4F2.CYP4F2)多态性分布,并探讨其与华法林抗凝维持剂量的关系。方法采集112例心脏机械瓣膜置换术后服用华法林抗凝已达稳定剂量、凝血酶原时间国际标准化比值INR在目的范围(1.5-2.5)病人的外周血,采用用聚合酶链式反应(polymerase chain reaction,PCR)基因测序的方法检测CYP4F2 rs2108622基因位点的基因型和等位基因频率,探讨华法林抗凝维持剂量与该基因多态性的关系。结果在所有的样本中,CYP4F2 rs2108622基因共检出C(73.1%)和T(26.9%)2种等位基因,检出基因有CC、TT和CT 3种基因型,其基因频率分别为54.1%、41.2和4.7%,人群中CYP4F2 rs2108622基因多态性分布在性别和年龄上无差异;TT基因型患者所需华法林维持剂量最高(4.7±0.99)mg/d,其次为CT基因型患者(3.70±0.85)mg/d,最少的是CC基因型患者(2.46±0.75)mg/d。结论中国汉族人群CYP4F2 rs2108622基因位点具有遗传多态性,其基因型在华法林抗凝治疗中具有重要指导意义。
Objective To investigate the polymorphism distribution and characteristics of cytochrome P-450 4F2(CYP4F2), as well as the relationship between the polymorphism and warfarin dose requirments in Han population.Methods Blood samples were collected from 112 patients with stable warfarin dose requirements,PCR-RFLP techniques were used to detect genes and genotypes of CYP4F2 rs2108622,and international normalized ratio(INR)of the prothrombin time within the target range(1.5-2.5), polymorphisms for CYP4F2 rs2108622 were also analyzed.Results We obtained two alleles of C and T,with the frequencies of 73.1% and 26.9%,respectively.The genotypes showed that 54.1% patients were homozygous CC,41.2% were heterozygous CT and4.7% were heterozygous TT.No differences were found between age and gendre.Patients with TT genotypes required higher warfarin dose(4.7±0.99)mg/d than those with CC(2.46±0.75)mg/d;CC:TT<0.05).Conclusion Detecting genetic polymorphism of CYP4F2 rs2108622 could guide individual warfarin dose to reduce the risk of adverse reactions in patients receiving chronic anticoagulation therapy.
出处
《江西医药》
CAS
2013年第4期312-315,共4页
Jiangxi Medical Journal