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首页> 外文期刊>Pharmacogenomics >Identification and characterization of a novel CYP2C9 allelic variant in a warfarin-sensitive patient
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Identification and characterization of a novel CYP2C9 allelic variant in a warfarin-sensitive patient

机译：华法林敏感患者的新型CYP2C9等位基因变异体的鉴定与表征

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Aim: To determine the genetic basis of the low warfarin dose requirement in a Chinese patient. Materials & methods: Bi-directional sequencing of CYP2C9, VKORC1 and CYP4F2 genes was performed. CYP2C9 variants were highly expressed in yeast and insect-cell microsomes. Three typical CYP2C9 probe drugs were used to evaluate the catalytic activity. Results: A novel missense mutation (1400T>C) was identified in CYP2C9 and had been named as new allele *60. When expressed in yeast and insect cells, compared with wild-type enzyme, variant CYP2C9.60 exhibited lower protein expression capacity and showed significantly decreased metabolic activities for the hydroxylation of S-warfarin, tolbutamide and diclofenac. Conclusion: The novel mutation can greatly decrease the enzymatic activity of the CYP2C9 enzyme both in vitro and in vivo.
机译：目的：确定华裔患者低剂量华法林的遗传基础。材料与方法：对CYP2C9，VKORC1和CYP4F2基因进行双向测序。 CYP2C9变异体在酵母和昆虫细胞微粒体中高度表达。使用三种典型的CYP2C9探针药物评估催化活性。结果：在CYP2C9中鉴定出一个新的错义突变（1400T> C），并被命名为新等位基因* 60。当在酵母和昆虫细胞中表达时，与野生型酶相比，变体CYP2C9.60表现出较低的蛋白表达能力，并显着降低了S-华法林，甲苯磺丁酰胺和双氯芬酸的羟基化代谢活性。结论：该新突变可大大降低CYP2C9酶的体内外酶活性。

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