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目的:研究细胞色素P-450 2D6基因分型测定方法及其与表型的吻合率。方法:利用等位基因特异扩增法基本原理,对CYP2D6酶缺陷等位基因CYP2D6*3,*4,*6和*7进行测定。结果:通过168例基因分型,并将结果与表型对照,发现同时测定CYP2D6*3,*4,*6和*7等位基因时,125例快代谢者和43例慢代谢者的基因分型结果与表型结果的吻合率为100％。快代谢者至少有一个野生型CYP2D6等位基因,基因型为*1/*1,*1/*3和*1/*4。发现慢代谢者是CYP2D6突变型纯合子,基因型为*3/*4,*4/*4,*3/*6,*4/*7,*4/*6和*6/*6。结论:对CYP2D6*3,*4,*6和*7等位基因的测定能够准确预测其表型。
Objective: To study the method of genotyping cytochrome P-450 2D6 and its coincidence rate with phenotype. Methods: CYP2D6 allele CYP2D6 * 3, * 4, * 6 and * 7 were determined by the basic principles of allele-specific amplification. Results: 168 cases of genotypes were detected, and the results were compared with the phenotype. It was found that in the simultaneous determination of CYP2D6 * 3, * 4, * 6 and * 7 alleles, 125 fast metabolizers and 43 slow metabolizers The agreement between typing results and phenotypic results was 100%. Fast metabolizers have at least one wild-type CYP2D6 allele with genotype * 1 / * 1, * 1 / * 3 and * 1 / * 4. The slower metabolizers were found to be CYP2D6 mutant homozygotes with genotypes * 3 / * 4, * 4 / * 4, * 3 / * 6, * 4 / * 7, * 4 / * 6 and * 6 / * 6. Conclusion: The CYP2D6 * 3, * 4, * 6 and * 7 alleles can accurately predict their phenotype.