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目的根据突变阻断扩增原理,建立用于检测中国人CYP2D6*10及*14等位基因的方法。方法采用单管四引物法检测CYP2D6*10等位基因,建立等位基因特异扩增法检测CYP2D6*14等位基因,检测295名健康中国汉族人CYP2D6*10等位基因。结果CYP2D6*10及*14等位基因基因频率分别为55.8%和1.8%,295位受试者中包括1位*14/*14、6位*1/*14、3位*10/*14,基因型分布符合Hardy-Weinberg平衡(χ2=2.15,df=5,P>0.82)。结论本室建立的CYP2D6*10、*14等位基因分析法具有方便快捷、结果准确可靠的特点。
Objective To establish a method for detecting CYP2D6 * 10 and * 14 alleles in Chinese based on the principle of mutation blocking amplification. Methods CYP2D6 * 10 alleles were detected by single-tube four-primer method. CYP2D6 * 14 alleles were detected by allele-specific amplification and CYP2D6 * 10 alleles were detected in 295 healthy Han Chinese. Results The frequencies of CYP2D6 * 10 and * 14 alleles were 55.8% and 1.8%, respectively. The 295 subjects included 1 * 14 / * 14,6 * 1 / * 14 * 10 / * 14 , Genotype distribution in line with the Hardy-Weinberg equilibrium (χ2 = 2.15, df = 5, P> 0.82). Conclusion The CYP2D6 * 10 and * 14 alleles established in this study have the characteristics of convenience, quickness, accuracy and reliability.