细胞色素P-450 CYP2D6 (CYP2D6)基因型与表型的相关性

S Q Chen, P J Wedlund
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引用次数: 0

摘要

目的:研究CYP2D6基因型与其表型的相关性。方法:采用等位基因特异性聚合酶链反应法检测CYP2D6*3、*4、*6、*7等位基因,进行CYP2D6基因分型。结果:CYP2D6基因型与其表型在所有125个广泛代谢者和43个不良代谢者中均有良好的相关性。大量代谢者至少有一个CYP2D6野生型基因,基因型为*1/*1、*1/*3和*1/*4。代谢不良者为CYP2D6基因纯合突变体,基因型分别为*3/*4、*4/*4、*3/*6、*4/*7、*4/*6和*6/*6。结论:基因型可用于筛选CYP2D6的表达变化。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Correlation between cytochrome P-450 CYP2D6 (CYP2D6) genotype and phenotype.

Aim: To study the correlation between CYP2D6 genotype and its phenotype.

Methods: CYP2D6 genotyping was made by detecting CYP2D6*3, *4, *6, and *7 alleles with an allele-specific polymerase 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.

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