湖北人群CYP2D6多态性的初步研究

Analysis of CYP2D6 gene polymorphism of Chinese population in Hubei

目的初步研究湖北人群中CYP2D6基因的多态性,为后续的应用研究打下基础。方法采集137例志愿者静脉血,采用限制性片段长度多态性聚合酶链反应(PCR-RFLP)法分析CYP2D6*10基因多态性,测序法验证结果,哈迪-温伯格平衡定律检测基因型分布,卡方检验进行验证,并将结果和以往文献相比较。结果经测序验证,137例样本中,野生型(CC)为35例,出现频率为25.5%;杂合子(CT)为52例,出现频率为38.0%;突变型(TT)为50例,出现频率为36.5%,C等位基因的频率为44.5%,T等位基因的频率为55.5%,和以往研究结果相比,差异无统计学意义(P>0.05)。结论湖北人群中CYP2D6*10存在较高突变频率,在人群中开展基因分型对正确指导临床用药十分有必要。

Objective To preliminary study the distribution of CYP2 D6 polymorphism in Hubei population,with the intention of solid base for further applied research.Methods Venous blood was collected from137 volunteers,analysed CYP2 D6 ＊ 10 Gene Polymorphism by using polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP）method.genotypes can be distinguished by agarose gel electrophoresis and gene sequencing.Hardy-Weinberg equilibrium law could be used to detect whether the genotype distribution was balanced,and chi-square test was used for verification,and the results were compared with the previous literature.Results Among the 137 samples,wild type（CC）was 35,the frequency was 25.5%.Heterozygote（CT）was 52,the frequency was 38.0%.And mutant（TT）was 50,the frequency was 36.5%.Also,C allele frequency was 44.5% while the T allele was 55.5%.There was no statistical difference compared with previous studies（P〉0.05）.Conclusion Since there is a high mutation frequency of CYP2 D6＊10 in Hubei population,it is very necessary to carry out genotyping to guide clinical medication correctly.