首页> 外文期刊>Journal of human genetics >The high prevalence of the poor and ultrarapid metabolite alleles of CYP2D6, CYP2C9, CYP2C19, CYP3A4, and CYP3A5 in Taiwanese population.
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The high prevalence of the poor and ultrarapid metabolite alleles of CYP2D6, CYP2C9, CYP2C19, CYP3A4, and CYP3A5 in Taiwanese population.

机译:CYP2D6,CYP2C9,CYP2C19,CYP3A4和CYP3A5在台湾人群中的不良和快速代谢新陈代谢等位基因的患病率较高。

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摘要

Genetic polymorphisms of drug metabolizing enzymes, such as cytochromes P450 (CYPs), play major roles in the variations of drug responsiveness in human. The aim of this study is to identify the high prevalence (minor allele frequencies >1%) of the abnormal metabolite alleles of CYP2C9, CYP2C19, CYP2D6, CYP3A4, and CYP3A5 in the Taiwanese population. The genotyping of the functional single nucleotide polymorphisms (SNPs) of CYPs were conducted by direct exon sequencing in 180 Taiwanese volunteers. Twenty-one unique SNPs including three newly identified SNPs were detected in the Taiwanese population. Six of the 21 SNPs in five genes showed frequencies more than 1%. The results indicated that it could be very useful and important in developing an inexpensive, convenient, and precise genotyping method for the high prevalence of CYPs metabolizing abnormal alleles in the Taiwanese population.
机译:药物代谢酶的遗传多态性,例如细胞色素P450(CYP),在人类药物反应性的变化中起主要作用。这项研究的目的是确定台湾人群中CYP2C9,CYP2C19,CYP2D6,CYP3A4和CYP3A5的异常代谢产物等位基因的高患病率(次要等位基因频率> 1%)。 CYPs的功能性单核苷酸多态性(SNPs)的基因分型是通过直接外显子测序在180名台湾志愿者中进行的。在台湾人口中检测到21个独特的SNP,包括三个新近鉴定的SNP。五个基因中的21个SNP中有六个显示频率超过1%。结果表明,它对于开发一种廉价,方便,精确的基因分型方法,对于CYPs在台湾人群中代谢异常等位基因的高流行率来说,可能是非常有用和重要的。

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