皖南某地汉族人群CYP2C9 1075A>C和VKORC1 1639G>A基因多态性研究

Study on genetic polymorphism of CYP2C9 1075A>C and VKORC1 1639G>A in Chinese Han population from one south Anhui areas

目的探讨CYP2C9和VKORC1基因在皖南地区汉族人群中多态性分布。方法选取皖南医学院弋矶山医院2013年8月至2014年8月135例需接受华法林抗凝治疗的患者,采用原位杂交荧光染色分析技术检测患者CYP2C9 1075A>C和VKORC1 1639G>A基因型。结果患者CYP2C9 1075AA基因型94.07%,AC基因型为5.19%,CC基因型为0.74%;VKORC1 1639基因AA型83.71%,GA型14.81%,GG型1.48%。CYP2C91075A等位基因分布频率为96.67%,C等位基因频率为3.33%;VKORC1 1639A等位基因和G等位基因分布频率分别为91.11%和8.89%。CYP2C9 1075AA/VKORC1 1639AA基因组合分布频率为78.52%。结论皖南地区汉族人群CYP2C9和VKORC1基因存在多态性分布,可为华法林个体化抗凝提供用药参考。

Objective To study the genetic polymorphism of CYP2C9 and VKORC1 in Chinese Han population from South Anhui areas .Method 135 patients receiving anticoagulant therapy with warfarin in one 3rd grade class hospitals of Wannan Medical College from August 2013 to August 2014 were involved .The genotype of CYP2C9 1075A>C and VKORC1 1639G>A were detected by fluorescence in situ hybridization FISH .Result The frequen‐cies of AA ,AC and CC were 94 .07% ,5 .19% and 0 .74% separately in CYP2C9 1075A>C ,and that of VKORC1 1639AA was 83 .71% ,GA was 14 .81% and GG was 1 .48% , separately . The allelic frequencies A and C of CYP2C9 1075A> C were 96 .67% and 3 .33% and that of A and G of VKORC1 1639G/A were 91 .11% and 8 .89% ,separately .The frequency of CYP2C9 1075AA and VKORC1 1639AA combined was 78 .52% .Conclusion The CYP2C9 and VKORC1 genetic polymorphism presents in Chinese Han population from south Anhui areas , which could provide the reference on individualized anticoagulant therapy with warfarin .