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目的对中国汉族、维吾尔族健康人群CYP3A4、CYP2C9、CYP2C19、CYP2D6进行基因多态性分析,并对汉族和维吾尔族人群等位基因频率和基因型频率进行比较。方法聚合酶链反应一限制性片段长度多态性(PCR-RFLP)法对CYP3A4、CYP2C9、CYP2C19、CYP2D6进行分型。结果汉族、维吾尔族健康人群CYP3A4*5等位基因频率为0,CYP3A4*18等位基因频率分别为0.183 8、0.140 2;CYP2C9*2等位基因频率分别为0.011 0、0.095 8,CYP2C9*13等位基因频率分别为0、0.002 3;CYP2C19*2等位基因频率分别为0.386 0、0.324 8,CYP2C19*3等位基因频率分别为0.051 5、0.021 0;CYP2D6*10等位基因频率分别为0.573 5、0.224 3。结论本研究在汉族、维吾尔族健康人群中未发现CYP3A4*5等位基因。汉族、维吾尔族健康人群CYP3A4*18、CYP2C9*13、CYP2C19*2、CYP2C19*3等位基因频率差异均无统计学意义。维吾尔族健康人群CYP2C9*2等位基因频率远高于汉族(P<0.01);CYP2D6*10等位基因频率远低于汉族(P<0.01),存在民族差异。
Objective To analyze the genetic polymorphism of CYP3A4, CYP2C9, CYP2C19 and CYP2D6 in Han and Uygur nationality healthy population and to compare the allele frequency and genotype frequency between Han and Uygur population. Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect CYP3A4, CYP2C9, CYP2C19 and CYP2D6. Results The frequency of CYP3A4 * 5 alleles in healthy Han and Uygur nationality population was 0, the frequencies of CYP3A4 * 18 allele were 0.183 8 and 0. 0140 2 respectively, and the frequencies of CYP2C9 * 2 allele were 0.011 0,0.095 8 and CYP2C9 * 13 The allele frequencies of CYP2C19 * 2 allele were 0.386 0,0.324 8 and CYP2C19 * 3 allele were 0.051 5,0.021 0 respectively. The frequencies of CYP2D6 * 10 allele were 0.573 5,0.224 3. Conclusion This study found no CYP3A4 * 5 alleles in healthy Han and Uygur population. Han, Uygur healthy population CYP3A4 * 18, CYP2C9 * 13, CYP2C19 * 2, CYP2C19 * 3 allele frequency differences were not statistically significant. The frequency of CYP2C9 * 2 allele in healthy Uighur population was much higher than that in Han population (P <0.01). The frequency of CYP2D6 * 10 allele was much lower than that in Han population (P <0.01).