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香豆素-coumarin
变量_单倍型
CYP2A6*4D, CYP2A6*5
记事
Case report. Genomic DNA obtained from a Spanish subject H83 who was previously found to be homozygous for CYP2A6*3. Phenotyping with the probe drug coumarin demonstrated that the subject completely lacked CYP2A6 activity in vivo. The subject was also found to have the CYP2A6*5 allele and the CYP2A6*47 allele. CYP2A6*5, located at translation initiation site, was introduced to CYP2A6 wildtype cDNA in vitro, resulting in diminished enyzme expression as well has a less stable enzyme that is rapidly degraded. Genomic DNA was also obtained from 100 Spaniards and 96 Chinese individuals and none had the CYP2A6*3 allele. Please note that the *47 allele is described as the *4D allele in the paper and has subsequently been reassigned by PharmVar.
专家论述
CYP2A6 *5/*47 is associated with decreased metabolism of coumarin.