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目的用基因分型技术对中国汉族、蒙古族健康人CYP3A4、CYP2C9、CYP2C19、CYP2D6进行基因多态性分析,并对汉族人和蒙古族人基因表型和基因频率进行比较。方法聚合酶链反应-限制性片段长度多态性(PCR-RFLP)对CYP3A4、CYP2C9、CYP2C19、CYP2D6进行分型。结果汉族、蒙古族健康人CYP3A4*5等位基因频率为0,CYP3A4*18等位基因频率分别为0.183 8、0.202 5,CYP2C9*2等位基因频率分别为0.011 0、0.025 3,CYP2C9*13等位基因频率分别为0、0.00 32,CYP2C19*2等位基因频率分别为0.386 0、0.4146,CYP2C19*3等位基因频率分别为0.051 5、0.044 3,CYP2D6*10等位基因频率分别为0.573 5、0.465 2。结论汉族、蒙古族健康人群CYP3A4*18、CYP2C19*2、CYP2C19*3、CYP2D6*10等位基因频率均没有显著性差异;本试验在汉族、蒙古族健康人中未发现CYP3A4*5等位基因;仅在蒙古族健康受试人群中发现1人为CYP2C9*1/*13基因型;蒙古族CYP2C9*2等位基因频率远小于汉族(P=0.023)。
Objective To analyze the gene polymorphism of CYP3A4, CYP2C9, CYP2C19 and CYP2D6 in Chinese Han and Mongolian population by genotyping and to compare the gene phenotype and gene frequency of Han and Mongolian people. Methods CYP3A4, CYP2C9, CYP2C19 and CYP2D6 were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results The frequency of CYP3A4 * 5 alleles was 0 in Han and Mongolian nationality, the frequencies of CYP3A4 * 18 alleles were 0.183 8,0.202 5, CYP2C9 * 2 alleles were 0.011 0,0.025 3, CYP2C9 * 13 The frequencies of the alleles of CYP2C19 * 2 and CYP2C19 * 2 were 0.386 0,0.4146 and 0,0.00 32, respectively. The frequencies of CYP2C19 * 3 alleles were 0.051 5 and 0.0443, respectively. The frequencies of CYP2D6 * 10 alleles were 0.573 5,0.465 2. Conclusion There is no significant difference in the frequencies of CYP3A4 * 18, CYP2C19 * 2, CYP2C19 * 3 and CYP2D6 * 10 alleles between Han and Mongolian healthy people. No CYP3A4 * 5 allele was found in healthy Han and Mongolian population ; Only one human CYP2C9 * 1 / * 13 genotype was found in healthy Mongolian subjects; the Mongolian CYP2C9 * 2 allele frequency was much less than that in Han nationality (P = 0.023).