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目的 建立CYP2D6 10B的等位基因特异扩增法 (ASA PCR) ,以探讨中国人CYP2D6中速代谢的基因分型。方法 采用两步扩增法得到CYP2D6 10B等位基因特异片段 ,分析健康中国汉族人CYP2D6 10B等位基因 ,并探讨基因分型结果与右美沙芬表型分型结果的相关性。结果 35名表型为极快代谢受试者 (VEMs)中 ,CYP2D6 10B以杂合子 (wt/m)为主占 5 7% ;2 9名中速代谢受试者 (IMs)以突变型纯合子 (m/m)为主占 6 9% ;慢代谢受试者 (PM)基因型为m/m。CYP2D6 10Bm/m组的MR明显大于wt/m组和野生型组 (wt/wt)。结论 ASA PCR法有快速、准确的优点 ,可用于CYP2D6中速代谢的检测与研究
Objective To establish an allele-specific amplification assay (CYP2D6 10B) to investigate the genotyping of CYP2D6 in Chinese population. Methods The CYP2D6 10B allele was amplified by two-step amplification and the CYP2D6 10B allele was analyzed in healthy Chinese Han population. The relationship between genotyping results and dextromethorphan phenotype was analyzed. Results Among the 35 phenotypes of extremely fast metabolic subjects (VEMs), CYP2D6 10B predominated in heterozygotes (wt / m), accounting for 57.7% of the total. Among the 29 moderately metabolizing subjects (IMs) (m / m) accounted for 69%; slow metabolism of subjects (PM) genotype m / m. The MR of the CYP2D6 10Bm / m group was significantly greater than that of the wt / m group and the wild-type group (wt / wt). Conclusion ASA PCR method has the advantages of fast and accurate, and can be used for the detection and research of the medium-speed metabolism of CYP2D6