湖北省汉族肿瘤患者CYP 2 C19∗2多态性分布频率∗

摘要

Objective To investigate the distribution frequency of allele genetic polymorphism of drug-metabolizing enzyme CYP2C19∗2 (rs4244285) in tumor patients of Han population from Hubei province,to provide guidance for clinical rational drug use related to the genetic polymorphism. Methods CYP2C19∗2 genotyping was performed by Fluorescence Dye Terminator Cycle Sequencing System in 285 cancer patients. Genotype frequency and allele frequency were calculated and the genotype distribution in different genders was compared. Compared with the previous studies, we clarified the frequencies of CYP2C19∗2 gene polymorphisms in different nationalities. Results All the 285 patients in this study were Han population. The genotype frequency of CYP2C19∗2 was 113 (39.6%),138 (48.4%) and 34 (11.9%) for wild-type homozygote (GG), heterozygote (GA) and variant homozygote (AA),respectively.The CYP2C19∗2 mutant allele frequency was 36.1%.Genotype distribution of male and female patients did not reach significant difference. Conclusion There is no difference in CYP2C19∗2 genotypes distribution among different ethnic groups.%目的：探讨湖北地区汉族肿瘤患者药物代谢酶CYP2C19∗2( rs4244285)等位基因分布频率，以期为该基因多态性相关药物的合理用药研究提供理论依据。方法收集肿瘤患者285例，应用荧光染料终止循环测序系统对患者CYP2C19∗2的基因型进行检测，计算基因型频率和等位基因频率，并比较不同性别基因型的分布，同时结合既往研究，以明确CYP2C19∗2基因型在不同民族的分布。结果285例患者均为汉族，CYP2C19∗2野生型(GG)113例(39.6％)，杂合型(GA)138例(48.4％)，变异型(AA)34例(11.9％)，变异等位基因频率为36.1％；男性和女性患者基因型分布无明显差异。结论 CYP2C19∗2基因型分布在不同民族间未发现存在明显差异。