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目的 :建立细胞色素P4 50 2D6(CYP2D6)第 3 0 2 3位A→C突变造成CYP2D6酶活性缺陷的等位基因CYP2D6E的测定方法。方法 :利用等位基因特异扩增法 (ASA)为基本原理 ,设计两对引物分别扩增野生型等位基因和突变型等位基因。结果 :经 3 96例测定 ,发现 2例CYP2D6E与CYP2D6B的异突变型纯合子 ,其表现型均为慢代谢者。阳性对照说明本法重复性好 ,阴性对照显示本法无污染问题。结论 :本法比PCR -RFLP法更为快捷、更少污染。对CYP2D6E的测定有助于准确预测CYP2D6表现型
OBJECTIVE: To establish a method for the determination of CYP2D6E allele, which causes the deficiency of CYP2D6 enzyme activity at the 303rd A → C mutation of cytochrome P450 2D6 (CYP2D6). Methods: Using allele-specific amplification (ASA) as the basic principle, two pairs of primers were designed to amplify the wild-type alleles and the mutant alleles respectively. Results: After the determination of 3 96 cases, found in 2 cases of CYP2D6E and CYP2D6B heterozygous homozygotes, the phenotype are slow metabolizers. Positive control shows that this method repeatability, negative control shows no pollution problems in this law. Conclusion: This method is faster and less contaminated than PCR-RFLP. The determination of CYP2D6E helps to accurately predict the CYP2D6 phenotype