ASA法测定细胞色素P4502D6酶缺陷等位基因CYP2D6E  

Analysis of cytochrome P450 2D6 enzyme defect allele CYP2D6E by allele-specific amplification

作　　者：陈枢青[1] 赵鲁杭[1] 孙红颖[1] Peter J Wedlund 

机构地区：[1]浙江医科大学生物化学教研室,杭州310006 [2]CollegeofPharmacy

出　　处：《中国现代应用药学》1999年第2期41-43,共3页Chinese Journal of Modern Applied Pharmacy

基　　金：浙江省卫生厅科研基金;浙江省自然科学基金!(第 396473号)的资助

摘　　要：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。OBJECTIVE:To set up a genotyping method for CYP2D6E allele which is a 3023 A→C mutation on CYP2D6 gene and result in a function deficient enzyme.METHOD:Two pairs of primers were designed to separately amplify wildtype and mutant CYP2D6E allele based on the principle of allele-specific amplification.RESULTS:This method was employed to genotyping 396 subjects,2 of them with the genotype of CYP2D6E heterozygote and CYP2D6B heterozygote were found to be poor metabolizers.Positive and negative controls indicated that the method be accurate and without the problem of contamination.CONCLUSION:The method was proved to be simple,quick,accurate and less contamination in comparing with the PCR-RFLP protocol.

关 键 词：细胞色素P450 CYP2D6 CYP2D6E ASA法 

分 类 号：Q559.9[生物学—生物化学]