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细胞色素P-450 CYP2D6基因分型与表型的吻合率
引用本文:陈枢青,Peter J WEDLUND. 细胞色素P-450 CYP2D6基因分型与表型的吻合率[J]. Acta pharmacologica Sinica, 1999, 0(7)
作者姓名:陈枢青  Peter J WEDLUND
作者单位:浙江大学医学院生物化学教研室,Department of Pharmacology and Experiment Therapeutics,College of Pharmacy,University of Kentucky,Lexington KY 40536,USA 杭州 中国 310006
基金项目:Project partially supported by Zhejiang Natural Science Foundation (Item № 396473),most of the work was done in Dr Wedlund's Laboratory in University of Kentucky, USA.
摘    要:
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。

关 键 词:细胞色素P-450 CYP2D6基因分型  表型分型  等位基因

Correlation between cytochrome P-450 CYP2D6 (CYP2D6) genotype and phenotype
CHEN Shu-Qing. Correlation between cytochrome P-450 CYP2D6 (CYP2D6) genotype and phenotype[J]. Acta pharmacologica Sinica, 1999, 0(7)
Authors:CHEN Shu-Qing
Abstract:
AIM: To study the correlation between CYP2D6 genotype and its phenotype. METHODS: CYP2D6genotyping was made by detecting CYP2D6 * 3, * 4,*6, and * 7 alleles with an allele-specific polyinerase chain reaction procedure. RESULTS: The CYP2D6 genotypes were well correlated with its phenotypes in all 125 extensive metabolizers and in 43 poor metabolizers. Extensive metabolizers had at least one wildtype CYP2D6 gene and the genotypes were *1/*1,*1/ * 3, and * 1/ * 4. Poor metabolizers were found to be homozygous mutants of CYP2D6 gene and the genotypes were *3/*4, *4/*4, *3/*6, *4/*7, *4/*6, and *6/*6. CONCLUSION: Genotype could be used to screen variations of CYP2D6 expression.
Keywords:cytochrome P-450 CYP2D6  genotype  phenotype  alleles  polymerase chain reaction
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